Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (Q92134631)

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27 April 2020

title

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (English)

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Cornelia de Lange syndrome

27 April 2020

main subject

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7

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Yuri Uchiyama

10

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Atsushi Takata

16

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Naomichi Matsumoto

22

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21

Chong Ae Kim

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6

Rachel S Honjo

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author name string

Hiromi Aoi

1

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Takeshi Mizuguchi

2

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José Ricard Ceroni

3

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Veronica Eun Hue Kim

4

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Isabel Furquim

5

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Toshifumi Suzuki

8

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Futoshi Sekiguchi

9

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Yoshiteru Azuma

11

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Kohei Hamanaka

12

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Eriko Koshimizu

13

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Satoko Miyatake

14

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Satomi Mitsuhashi

15

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Noriko Miyake

17

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Satoru Takeda

18

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Atsuo Itakura

19

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Débora R Bertola

20

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publication date

23 July 2019

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Journal of Human Genetics

27 April 2020

published in

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volume

64

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issue

10

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page(s)

967-978

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A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

27 April 2020

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Identifiers

DOI

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27 April 2020

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