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1 .
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
저자
by
Brad Angle
;
Rotem Ben-Shachar
;
Gabriel A. Lazarin
;
Allison L. Goetsch
;
Katherine Johansen Taber
, et al.
소스
Prenatal Diagnosis
Open Access (OpenAIRE)
Web of Science
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7 .
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
저자
by
Céline Bonnet
;
Carrie Costin
;
Caitlin E. Lawson
;
Margje Sinnema
;
Merel Klaassens
, et al.
소스
Journal of Medical Genetics, 57, 717-724
Journal of Medical Genetics, 57, 10, pp. 717-724
Journal of Medical Genetics, 57(10), 717-724. BMJ Publishing Group
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7 .
WRNMutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
저자
by
Sheela Nampoothiri
;
Aki Watanabe
;
Antonio Federico
;
Hagit N. Baris
;
Martin Poot
, et al.
소스
Human Mutation
. 38:7-15
Open Access (OpenAIRE)
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7 .
Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants
저자
by
John Millichap
;
Charu Venkatesan
;
Brad Angle
.
소스
Epileptic Disorders
. 18:195-200
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5 .
Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
저자
by
Honey Nagakura
;
Victoria Roberts
;
Kyle Retterer
;
Elliott H. Sherr
;
Patrik Vitazka
, et al.
소스
American Journal of Medical Genetics Part A
. 170:1791-1798
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7 .
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
저자
by
Sara Halbach
;
Mark C. Hannibal
;
David B. Beck
;
Amber Begtrup
;
Bridget C. O’Connor
, et al.
소스
neurogenetics
. 17:173-178
Web of Science
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7 .
Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion
저자
by
David Craig
;
Justine Coppinger
;
Joshua L. Goldstein
;
Dean Sarco
;
Robert G. Little
, et al.
소스
Journal of Pediatric Neurology
. :279-283
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7 .
Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome
저자
by
Adi Algrabli
;
Sonal Mahida
;
William Allen
;
Cruz Velasco Gonzalez
;
Marta Szybowska
, et al.
소스
Paediatrics Publications
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7 .
Cover Image, Volume 176A, Number 4, April 2018
저자
by
Yuri A. Zarate
;
Constance L. Smith‐Hicks
;
Carol Greene
;
Mary‐Alice Abbott
;
Victoria M. Siu
, et al.
소스
American Journal of Medical Genetics Part A
. 176
Open Access (OpenAIRE)
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7 .
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool
저자
by
Shivarajan M. Amudhavalli
;
Randi Hanson
;
Kelly Bontempo
;
Karen W. Gripp
;
Brad Angle
.
소스
American journal of medical genetics. Part A
. 176(7)
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