Genetic Disorders of Male Sexual Differentiation (Q40120902)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6249099%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Genetic disorders of male sexual differentiation (English)

1 reference

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29 October 2019

Genetic Disorders of Male Sexual Differentiation (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

6 September 2023

3

Migeon CJ

1 reference

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29 October 2019

author name string

K. R. Fichman

1

1 reference

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6 September 2023

B. R. Migeon

2

1 reference

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6 September 2023

C. J. Migeon

3

1 reference

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6 September 2023

publication date

1 January 1980

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29 October 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6249099

http://link.springer.com/content/pdf/10.1007/978-1-4615-8288-5_5.pdf

6 September 2023

work available at URL

1 reference

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Advances in human genetics

6 September 2023

published in

1 reference

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29 October 2019

volume

10

1 reference

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29 October 2019

page(s)

333-77, 387

1 reference

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publication type of scholarly work

29 October 2019

review article

1 reference

Maternal Progestins as a Possible Cause of Hypospadias

cites work

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6 September 2023

The vanishing testis

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Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency

6 September 2023

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Partial androgen insensitivity: the Reifenstein syndrome revisited

6 September 2023

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Studies of androgen production and binding in 13 male pseudohermaphrodites and 13 males with micropenis

6 September 2023

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Androgen insensitivity in man: evidence for genetic heterogeneity

6 September 2023

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NEPHROBLASTOMA IN A CASE OF AGONADISM

6 September 2023

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Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder

6 September 2023

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Hypogonadism in a Male with Immunologically Active, Biologically Inactive Luteinizing Hormone: An Exception to a Venerable Rule*

6 September 2023

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Steroid Hormone Receptors

6 September 2023

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Leydig-cell agenesis: a cause of male pseudohermaphroditism

6 September 2023

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17-hydroxylation deficiency in man

6 September 2023

15

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M??llerian-inhibiting Activity of Human Fetal Testicular Tissue Deprived of Germ Cells by in Vitro Irradiation

6 September 2023

16

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The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase

6 September 2023

17

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HEREDITARY MALE PSEUDOHERMAPHRODITISM WITH HYPOGONADISM, HYPOSPADIAS, AND GYNECOMASTIA: REIFENSTEIN'S SYNDROME

6 September 2023

18

1 reference

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A New Male Pseudohermaphroditism Associated with Hypertension due to a Block of 17α-Hydroxylation

6 September 2023

20

1 reference

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Familial occurrence of persistent Mullerian structures in otherwise normal males

6 September 2023

21

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Leydig Cell Hypoplasia: A Cause of Male Pseudohermaphroditism

6 September 2023

22

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone

6 September 2023

25

1 reference

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Germ cells in the ovaries of XO female infants

6 September 2023

26

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Familial XY gonadal dysgenesis.

6 September 2023

27

1 reference

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TWO XY SIBLINGS WITH GONADAL DYSGENESIS AND A FEMALE PHENOTYPE

6 September 2023

29

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia.

6 September 2023

30

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Recessive sex-determining genes in human XX male syndrome

6 September 2023

32

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

6 September 2023

33

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

The fine structure of the gonads in the complete form of testicular feminization syndrome

6 September 2023

36

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS

6 September 2023

37

1 reference

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X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome

6 September 2023

38

1 reference

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TESTICULAR FEMINIZATION: CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL STUDIES

6 September 2023

40

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Male pseudohermaphrodism with XYY sex chromosomes

6 September 2023

41

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

6 September 2023

42

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Further evidence of a target organ defect in the syndrome of testicular feminization

6 September 2023

43

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Solubilization and separation of Δ5,3β-hydroxysteroid dehydrogenase and 3-oxosteroid-Δ4–Δ5-isomerase from bovine adrenal cortex microsomes

6 September 2023

44

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Genetically Determined Sex-Reversal in 46,XY Humans

6 September 2023

45

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial male pseudohermaphroditism without gynecomastia due to deficient testicular 17-ketosteroid reductase activity

6 September 2023

48

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Male pseudohermaphroditism due to testicular 17 -hydroxysteroid dehydrogenase deficiency

6 September 2023

49

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome

6 September 2023

50

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance

6 September 2023

51

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Detection of the heterozygous state in siblings of patientswith congenital adrenal hyperplasia due to 21-hydroxylase deficiency

6 September 2023

54

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency

6 September 2023

57

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male

6 September 2023

59

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

6 September 2023

61

1 reference

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Male pseudohermaphroditism: The complexities of male phenotypic development

6 September 2023

62

1 reference

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Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency

6 September 2023

63

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The ontogenesis of human foetal hormones. II. Luteinizing hormone (LH) and follicle stimulating hormone (FSH)

6 September 2023

67

1 reference

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Paternal Transmission of Maleness in XX Human Beings

6 September 2023

68

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts

6 September 2023

69

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Syndrome of androgen insensitivity in man: absence of 5 alpha-dihydrotestosterone binding protein in skin fibroblasts

6 September 2023

71

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Androgen receptor in human skin fibroblasts characterization of a specific 17β-hydroxy-5α-androstan-3-one-protein complex in cell sonicates and nuclei

6 September 2023

72

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Studies in a phenotypic female with 17-α-hydroxylase deficiency

6 September 2023

73

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female

6 September 2023

74

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Bilateral Anorchia with Persistent Testosterone Production

6 September 2023

75

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Mapping the locus of the H-Y gene on the human Y chromosome

6 September 2023

76

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Hereditary Male Pseudohermaphroditism Associated with an Unstable Form of 5α-Reductase

6 September 2023

78

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group

6 September 2023

79

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Estradiol-17β: a metabolite of testosterone recovered in cell nuclei from limbic areas of neonatal rat brains

6 September 2023

80

1 reference

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Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: four cases secondary to hypothalamic hormone deficiencies

6 September 2023

81

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial male pseudohermaphrodism with labial testes and partial feminization: endocrine studies and genetic aspects

6 September 2023

83

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

X-linked Gene for Testicular Feminization in the Mouse

6 September 2023

84

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Clinical and Endocrinologic Characterization of a Patient with the Syndrome of Incomplete Testicular Feminization

6 September 2023

85

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Role of testosterone binding to the androgen receptor in male sexual differentiation of patients with 5α-reductase deficiency

6 September 2023

86

1 reference

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A study of the androgen receptors in a variety of androgen-sensitive tissues

6 September 2023

87

1 reference

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Characterization of the specific androgen receptors in the human prostate gland

6 September 2023

88

1 reference

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A reconstituted cell-free system for the specific transfer of steroid–receptor complexes into nuclear chromatin isolated from rat ventral prostate gland

6 September 2023

89

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries

6 September 2023

90

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Origin and Development of the Germinative Epithelium and Sertoli Cells in the Human Testis: Cytological, Cytochemical, and Quantitative Study

6 September 2023

91

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

The age of occurrence of gonadal tumors in intersex patients with a Y chromosome

6 September 2023

92

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Studies on testosterone metabolism in subjects with testicular feminization syndrome

6 September 2023

94

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial male pseudohermaphroditism with normal Leydig cell function at puberty

6 September 2023

96

1 reference

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Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity

6 September 2023

97

1 reference

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True hermaphrodite siblings

6 September 2023

99

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

6 September 2023

102

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

A new form of congenital adrenal hyperplasia

6 September 2023

104

1 reference

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Triploidy in man. Cytogenetical and clinical aspects

6 September 2023

105

1 reference

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Mechanisms of Action of Steroid Hormones

6 September 2023

108

1 reference

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The Receptors of Steroid Hormones

6 September 2023

109

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Pseudovaginal perineoscrotal hypospadias

6 September 2023

110

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

A case of male pseudohermaphroditism associated with elevated LH, normal FSH and low testosterone possibly due to the secretion of an abnormal LH molecule.

6 September 2023

111

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

"True agonadism": a misnomer?

6 September 2023

114

1 reference

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Familial Incomplete Virilization Due to Partial End Organ Insensitivity to Androgens

6 September 2023

115

1 reference

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Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency

6 September 2023

117

1 reference

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5alpha-reductase activity of genital and nongenital skin fibroblasts from patients with 5alpha-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism

6 September 2023

118

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

An adult phenotypic male with a 46,XX chromosome complement

6 September 2023

119

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Dysgenetic male pseudohermaphroditism

6 September 2023

121

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Endocrine and metabolic studies in an XY patient with gonadal agenesis

6 September 2023

122

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Studies of androgens in the syndrome of male pseudohermaphroditism with testicular feminization

6 September 2023

123

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial True Hermaphrodism

6 September 2023

124

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https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

6 September 2023

FAMILIAL GYNECOMASTIA.

125

1 reference

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Prepubertal diagnosis of steroid 5 alpha-reductase deficiency

6 September 2023

126

1 reference

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Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo

6 September 2023

127

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization)

6 September 2023

128

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Virilization of the Wolffian duct in the rat fetus by various androgens

6 September 2023

129

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Metabolism of testosterone- 14 C by cultured human cells

6 September 2023

130

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Non-inactivation of an X-Chromosome Locus in Man

6 September 2023

131

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Testosterone formation and metabolism during male sexual differentiation in the human embryo

6 September 2023

132

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

The anatomy and histology of XO human embryos and fetuses

6 September 2023

136

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Studies on spermatogenesis, meiotic chromosomes, and sperm morphology in two males with a 47,XYY chromosome complement

6 September 2023

137

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial Persistent Müllerian Duct Syndrome

6 September 2023

138

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial XY gonadal dysgenesis

6 September 2023

141

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Androgen receptors and metabolism in cultured human fetal fibroblasts

6 September 2023

143

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Transmission of 47, XYY karyotype?

6 September 2023

144

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Blood Production Rate of Dihydrotestosterone in the Syndrome of Male Pseudohermaphroditism with Testicular Feminization

6 September 2023

146

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Plasma concentration of testosterone, dihydrotestosterone, testosterone-oestradiol binding globulin, and pituitary gonadotrophins in the syndrome of male pseudo-hermaphroditism with testicular feminization

6 September 2023

147

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Immunogenetic aspects of abnormal sexual differentiation

6 September 2023

150

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Expression of H-Y Antigen in Human Males with Two Y Chromosomes

6 September 2023

151

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias

6 September 2023

152

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Human Testicular Development and the Role of the Mesonephros in the Origin of a Dual Sertoli Cell System*

6 September 2023

153

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Recent studies on the mechanism of action of testosterone

6 September 2023

155

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https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

6 September 2023

Sexual differentiation

156

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome

6 September 2023

157

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism

6 September 2023

161

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-beta-hydroxysteroid dehydrogenase. Case report of a surviving girl and steroid studies

6 September 2023

162

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8288-5_5

Isolation, composition and reactivity of the neutral glycoproteins from human meconiums with specificities of the ABO and Lewis systems

6 September 2023

166

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Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6249099

6 September 2023

1 reference