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11 . Periodical
A recurrent, homozygous EMC10frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
저자
by
Shao, Diane D.
;
Straussberg, Rachel
;
Ahmed, Hind
;
Khan, Amjad
;
Tian, Songhai
, et al.
소스
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1158-1162, 5p
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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17 . Academic Journal
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
저자
by
Alfares, Ahmed
;
Alsubaie, Lamia
;
Aloraini, Taghrid
;
Alaskar, Aljoharah
;
Althagafi, Azza
, et al.
소스
BMC Medical Genomics
. 7/17/2020, Vol. 13 Issue 1, p1-8. 8p.
Open Access (BioMed Central)
Web of Science
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17 . Academic Journal
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
저자
by
Khan, Amjad
;
Alaamery, Manal
;
Massadeh, Salam
;
Obaid, Abdulrahman
;
Kashgari, Amna A.
, et al.
소스
Clinical Genetics
. Jul2020, Vol. 98 Issue 1, p80-85. 6p. 1 Diagram, 2 Charts.
Web of Science
Scopus
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17 . Academic Journal
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
저자
by
Alkuraya, Hisham
;
Patel, Nisha
;
Ibrahim, Niema
;
Al Ghamdi, Bandar
;
Alsulaiman, Sulaiman M.
, et al.
소스
Clinical Genetics
. Mar2020, Vol. 97 Issue 3, p447-456. 10p. 3 Diagrams, 3 Charts.
Web of Science
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17 . Periodical
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
저자
by
Bertoli-Avella, Aida M.
;
Beetz, Christian
;
Ameziane, Najim
;
Rocha, Maria Eugenia
;
Guatibonza, Pilar
, et al.
소스
European Journal of Human Genetics: EJHG; January 2021, Vol. 29 Issue: 1 p141-153, 13p
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17 . Academic Journal
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
저자
by
Cheng, Hanyin
;
Gottlieb, Leah
;
Marchi, Elaine
;
Kleyner, Robert
;
Bhardwaj, Puja
, et al.
소스
Human Molecular Genetics; 9/1/2019, Vol. 28 Issue 17, p2900-2919, 20p
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17 . Academic Journal
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
저자
by
Almannai, Mohammed
;
Felemban, Rana
;
Saleh, Mohammed A.
;
Faqeih, Eissa A.
;
Alasmari, Ali
, et al.
소스
Pediatric Neurology
. Jul2019, Vol. 96, p40-47. 8p.
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17 . Academic Journal
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
저자
by
Alshenaifi, Jumanah
;
Ewida, Nour
;
Anazi, Shams
;
Shamseldin, Hanan E.
;
Patel, Nisha
, et al.
소스
Clinical Genetics
. Feb2019, Vol. 95 Issue 2, p310-319. 10p. 3 Diagrams, 3 Charts, 1 Graph.
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17 . Academic Journal
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
저자
by
Williams, Monique
;
Valayannopoulos, Vassili
;
Altassan, Ruqaiah
;
Chung, Wendy K.
;
Heijboer, Annemieke C.
, et al.
소스
Journal of Inherited Metabolic Disease; Jan2019, Vol. 42 Issue 1, p147-158, 12p
Web of Science
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17 . Academic Journal
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
저자
by
Shao, Diane D.
;
Straussberg, Rachel
;
Ahmed, Hind
;
Khan, Amjad
;
Tian, Songhai
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(6):1158-1162
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Web of Science
Scopus
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