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1 . Academic Journal
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
저자
by
Pizzo, Lucilla
;
Jensen, Matthew
;
Polyak, Andrew
;
Rosenfeld, Jill A.
;
Mannik, Katrin
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(4):816-825
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7 . Academic Journal
Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
저자
by
Zeesman, Susan
;
McCready, Elizabeth
;
Sadikovic, Bekim
;
Nowaczyk, Małgorzata JM
.
소스
American Journal Of Medical Genetics - A
. Jan 01, 2015 167(1):180-184
Web of Science
Scopus
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6 . Academic Journal
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
저자
by
Wang, David
;
Zeesman, Susan
;
Tarnopolsky, Mark A.
;
Nowaczyk, Małgorzata J.M.
.
소스
American Journal Of Medical Genetics - A
. Aug 01, 2013 161(8):2016-2019
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6 . Academic Journal
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
저자
by
Zeesman, Susan
;
Kjaergaard, Susanne
;
Hove, Hanne D.
;
Kirchhoff, Maria
;
Stevens, Jadd M.
, et al.
소스
American Journal Of Medical Genetics - A
. Aug 01, 2012 158A(8):1832-1836
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7 . Academic Journal
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.
저자
by
Dauber, Andrew
;
Golzio, Christelle
;
Guenot, Cécile
;
Jodelka, Francine?M.
;
Kibaek, Maria
, et al.
소스
American Journal of Human Genetics
. Nov2013, Vol. 93 Issue 5, p798-811. 14p.
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7 . Periodical
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
저자
by
Lowther, Chelsea
;
Speevak, Marsha
;
Armour, Christine M.
;
Goh, Elaine S.
;
Graham, Gail E.
, et al.
소스
Genetics in Medicine; January 2017, Vol. 19 Issue: 1 p53-61, 9p
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7 . Periodical
Molecular characterization of NRXN1deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
저자
by
Lowther, Chelsea
;
Speevak, Marsha
;
Armour, Christine M.
;
Goh, Elaine S.
;
Graham, Gail E.
, et al.
소스
Genetics in Medicine; January 2017, Vol. 19 Issue: 1 p53-61, 9p
Full Text (ScienceDirect)
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7 . Academic Journal
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
저자
by
Zeesman, Susan
;
Nowaczyk, Małgorzata J.M.
;
Teshima, Ikuko
;
Roberts, Wendy
;
Cardy, Janis Oram
, et al.
소스
American Journal Of Medical Genetics - A
. Mar 01, 2006 140A(5):509-514
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7 . Academic Journal
Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia.
저자
by
Feuk, Lars
;
Kalervo, Aino
;
Lipsanen-Nyman, Marita
;
Skaug, Jennifer
;
Nakabayashi, Kazuhiko
, et al.
소스
American Journal of Human Genetics
. Nov2006, Vol. 79 Issue 5, p965-972. 8p.
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7 . Academic Journal
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations.
저자
by
Fogli, Anne
;
Rodriguez, Diana
;
Eymard-Pierre, Eléonore
;
Bouhour, Françoise
;
Labauge, Pierre
, et al.
소스
American Journal of Human Genetics
. Jun2003, Vol. 72 Issue 6, p1544. 7p.
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