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1 . Academic Journal
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
저자
by
Wei, Aguan D.
;
Wakenight, Paul
;
Zwingman, Theresa A.
;
Bard, Angela M.
;
Sahai, Nikhil
, et al.
소스
Journal of Neurophysiology
. Jul2022, Vol. 128 Issue 1, p40-61. 22p.
Scopus
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7 . Academic Journal
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
저자
by
Towne, Meghan C.
;
Rossi, Mari
;
Wayburn, Bess
;
Huang, Jennifer M.
;
Radtke, Kelly
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p772-781, 10p
Scopus
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7 . Academic Journal
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
저자
by
Glinton, Kevin E.
;
Hurst, Anna C. E.
;
Bowling, Kevin M.
;
Cristian, Ingrid
;
Haynes, Devon
, et al.
소스
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1366-1378, 13p
Scopus
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7 . Academic Journal
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
저자
by
Sajan, Samin A.
;
Ganesh, Jaya
;
Shinde, Deepali N.
;
Powis, Zöe
;
Scarano, Maria I.
, et al.
소스
Journal of Medical Genetics; Dec2019, Vol. 56 Issue 12, p850-854, 5p
Full Text (BMJ Journals)
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7 . Academic Journal
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
저자
by
Snijders Blok, Lot
;
Kleefstra, Tjitske
;
Venselaar, Hanka
;
Maas, Saskia
;
Kroes, Hester Y.
, et al.
소스
American Journal of Human Genetics
. Aug2019, Vol. 105 Issue 2, p403-412. 10p.
Full Text (ScienceDirect)
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7 . Periodical
A second cohort of CHD3patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
저자
by
Drivas, Theodore G.
;
Li, Dong
;
Nair, Divya
;
Alaimo, Joseph T.
;
Alders, Mariëlle
, et al.
소스
European Journal of Human Genetics: EJHG; October 2020, Vol. 28 Issue: 10 p1422-1431, 10p
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7 . Academic Journal
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
저자
by
Helbig, Ingo
;
Lopez-Hernandez, Tania
;
Shor, Oded
;
Galer, Peter
;
Ganesan, Shiva
, et al.
소스
American Journal of Human Genetics
. Jun2019, Vol. 104 Issue 6, p1060-1072. 13p.
Full Text (ScienceDirect)
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7 . Academic Journal
An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3.
저자
by
Scheuerle, Angela E.
;
Sweed, Nathan T.
;
Timmons, Charles F.
;
Smith, Erica D.
;
Alcaraz, Wendy A.
, et al.
소스
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2858-2861, 4p
Scopus
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7 . Academic Journal
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
저자
by
Drivas, Theodore G.
;
Li, Dong
;
Nair, Divya
;
Alaimo, Joseph T.
;
Alders, Mariëlle
, et al.
소스
European Journal of Human Genetics
. 28(10):1422-1431
Scopus
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7 . Academic Journal
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
저자
by
Yanyan Peng
;
Shinde, Deepali N.
;
Valencia, C. Alexander
;
Jun-Song Mo
;
Rosenfeld, Jill
, et al.
소스
Human Molecular Genetics; 12/15/2017, Vol. 26 Issue 24, p4937-4950, 14p
Full Text (OUP)
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