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1 .
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
저자
by
Ana S.A. Cohen
;
Emily G. Farrow
;
Ahmed T. Abdelmoity
;
Joseph T. Alaimo
;
Shivarajan M. Amudhavalli
, et al.
소스
Genetics in Medicine
. 24:1336-1348
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7 .
Insurance denials and diagnostic rates in a pediatric genomic research cohort
저자
by
Tricia N. Zion
;
Courtney D. Berrios
;
Ana S.A. Cohen
;
Lauren Bartik
;
Laura A. Cross
, et al.
소스
Genetics in Medicine
. 25:100020
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7 .
IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
저자
by
Jill Jacobson
;
Keith A Coffman
;
Susan S Hughes
;
Caitlin Lawson
;
Erin D Fecske
, et al.
소스
Open Access (OpenAIRE)
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7 .
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
저자
by
David Francis
;
Yves Sznajer
;
Lieve Vanwalleghem
;
Jennifer Kussmann
;
David A. Bateman
, et al.
소스
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
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7 .
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
저자
by
Beatrice N. French
;
Blake C. Ballif
;
Jill A. Rosenfeld
;
Santhosh Girirajan
;
Eric Haan
, et al.
소스
Nature genetics, vol 42, iss 3
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
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7 .
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
저자
by
Jill A. Rosenfeld
;
Marwan Shinawi
;
Scott Saunders
;
Livija Medne
;
Shashikant Kulkarni
, et al.
소스
Human Mutation, vol. 33, no. 1, pp. 165-179
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7 .
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
저자
by
Jill A. Rosenfeld
;
David J. Amor
;
Wendy E. Smith
;
Rosemarie Smith
;
Allen N. Lamb
, et al.
소스
Journal of medical genetics, 49(2), 110-118. BMJ Publishing Group
Journal of Medical Genetics
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7 .
A copy number variation morbidity map of developmental delay
저자
by
Carl Baker
;
Lisa G. Shaffer
;
Gregory M. Cooper
;
Patricia I. Bader
;
Marybeth Hummel
, et al.
소스
Nature genetics
Open Access (OpenAIRE)
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7 .
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
저자
by
Stefania Gimelli
;
Chin-To Fong
;
Joris Vermeesch
;
Jennifer Kussmann
;
Jeroen Breckpot
, et al.
소스
JOURNAL OF MEDICAL GENETICS
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7 .
Corrigendum: A copy number variation morbidity map of developmental delay
저자
by
Elizabeth McCracken
;
Patricia I. Bader
;
Krys Johnson
;
Nora Alexander
;
Charles A. Williams
, et al.
소스
Nature Genetics
. 46:1040-1040
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