(Q57756447)

27

0 references

Mitsuhiro Kato

object named as

Mitsuhiro Kato

10

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Norio Niikawa

18

object named as

Norio Niikawa

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author name string

Tomoki Kosho

1

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Nobuhiko Okamoto

2

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Hirofumi Ohashi

3

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Yoko Imai

5

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Yumiko Hibi-Ko

6

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Hiroshi Kawame

7

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Tomomi Homma

8

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Saori Tanabe

9

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Yoko Hiraki

11

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Takanori Yamagata

12

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Shoji Yano

13

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Satoru Sakazume

14

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Takuma Ishii

15

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Toshiro Nagai

16

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Tohru Ohta

17

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Seiji Mizuno

19

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Tadashi Kaname

20

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Kenji Naritomi

21

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Yoko Narumi

22

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Keiko Wakui

23

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Yoshimitsu Fukushima

24

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Satoko Miyatake

25

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Takeshi Mizuguchi

26

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Noriko Miyake

28

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Naomichi Matsumoto

American Journal of Medical Genetics

29

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language of work or name

English

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publication date

June 2013

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published in

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volume

161A

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issue

6

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page(s)

1221-37

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cites work

Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

An unusual syndrome with mental retradation and sparse hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Nicolaides-Baraitser syndrome: Delineation of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35933