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1 . Academic Journal
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
저자
by
Wongkittichote, Parith
;
Duque Lasio, Maria Laura
;
Magistrati, Martina
;
Pathak, Sheel
;
Sample, Brooke
, et al.
소스
In
Molecular Genetics and Metabolism
August 2023 139(4)
Full Text (ScienceDirect)
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7 . Academic Journal
Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.
저자
by
Singh, Prapti
;
Amaro, Deirdre
;
Obi, Olugbemisola
;
Kiran, FNU
;
Hediger, Erin
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Jul2023, Vol. 64 Issue 4, p261-264, 4p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors.
저자
by
Sagaser, Katelynn G.
;
Malinowski, Jennifer
;
Westerfield, Lauren
;
Proffitt, Jennifer
;
Hicks, Melissa A.
, et al.
소스
Journal of Genetic Counseling; Jun2023, Vol. 32 Issue 3, p540-557, 18p
Web of Science
Scopus
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7 . Periodical
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
저자
by
Harris, Holly K.
;
Nakayama, Tojo
;
Lai, Jenny
;
Zhao, Boxun
;
Argyrou, Nikoleta
, et al.
소스
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1028-1040, 13p
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7 . Periodical
De novo variants in SNAP25cause an early-onset developmental and epileptic encephalopathy
저자
by
Klöckner, Chiara
;
Sticht, Heinrich
;
Zacher, Pia
;
Popp, Bernt
;
Babcock, Holly E.
, et al.
소스
Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p653-660, 8p
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7 . Periodical
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
저자
by
Lines, Matthew A.
;
Cuillerier, Alexanne
;
Chakraborty, Pranesh
;
Naas, Turaya
;
Duque Lasio, M. Laura
, et al.
소스
European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-6, 6p
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7 . Academic Journal
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.
저자
by
Baldridge, Dustin
;
Spillmann, Rebecca C.
;
Wegner, Daniel J.
;
Wambach, Jennifer A.
;
White, Frances V.
, et al.
소스
American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p1053-1065, 13p
Web of Science
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7 . Periodical
POLR1Band neural crest cell anomalies in Treacher Collins syndrome type 4
저자
by
Sanchez, Elodie
;
Laplace-Builhé, Béryl
;
Mau-Them, Frédéric Tran
;
Richard, Eric
;
Goldenberg, Alice
, et al.
소스
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p547-556, 10p
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7 . Academic Journal
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
저자
by
Amor, David J.
;
Stephenson, Sarah E.M.
;
Mustapha, Mirna
;
Mensah, Martin A.
;
Ockeloen, Charlotte W.
, et al.
소스
American Journal of Human Genetics
. May2019, Vol. 104 Issue 5, p914-924. 11p.
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7 . Academic Journal
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
저자
by
Granadillo, Jorge L.
;
Chung, Wendy K.
;
Hecht, Leah
;
Corsten‐Janssen, Nicole
;
Wegner, Daniel
, et al.
소스
Human Mutation; Dec2018, Vol. 39 Issue 12, p1875-1884, 10p
Web of Science
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