(Q53716635)

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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.

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Europe PubMed Central

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18 May 2018

http://europepmc.org/abstract/MED/27615324

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. (English)

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PubMed publication ID

18 May 2018

http://europepmc.org/abstract/MED/27615324

Christine Bellanné-Chantelot

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Christine Bellanné-Chantelot

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18 May 2018

Delphine Héron

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Delphine Heron

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18 May 2018

http://europepmc.org/abstract/MED/27615324

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Jean Donadieu

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Lucile Pinson

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18 May 2018

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Ange-Line Bruel

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Ange-Line Bruel

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Alexandra Gauthier-Vasserot

1

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Christel Thauvin-Robinet

2

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Yannis Duffourd

4

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Judith St-Onge

5

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Thibaud Jouan

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Jean-Baptiste Rivière

7

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Claire Briandet

11

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Frédéric Huet

12

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Paul Kuentz

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Daphné Lehalle

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Laurence Duplomb-Jego

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Elodie Gautier

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Isabelle Maystadt

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Daniel Amram

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Salima El Chehadeh

20

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Judith Melki

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Sophia Julia

22

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Laurence Faivre

23

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Julien Thevenon

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12 September 2016

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American Journal of Medical Genetics

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173

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Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

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HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

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Identifiers

10.1002/AJMG.A.37969

1 reference

Europe PubMed Central

PubMed publication ID

18 May 2018

http://europepmc.org/abstract/MED/27615324

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 May 2018

http://europepmc.org/abstract/MED/27615324

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