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1 . Academic Journal
Molecular genetics of inherited kidney disease in Saudi Arabia
저자
by
Mohamed H Al-Hamed
;
Faiqa Imtiaz
;
Jameela Kari
.
소스
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 19-25 (2018)
Open Access (DOAJ)
Find it @ DONGA
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5 .
Residual risk for additional recessive diseases in consanguineous couples
저자
by
Lama Al-Abdi
;
Mohamed H Al-Hamed
;
Rana Helaby
;
Faiqa Imtiaz
;
Shatha Alrashseed
, et al.
소스
Genetics in Medicine
. 23:2448-2454
Full Text (ScienceDirect O/A)
Web of Science
Scopus
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7 .
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
저자
by
Nada Derar
;
John A. Sayer
;
Khushnooda Ramzan
;
Gawaher Almutairi
;
Bashayer Saeed
, et al.
소스
Human Genetics
. 141:101-126
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
저자
by
Ian J. Wilson
;
Mohammed S. Al Riyami
;
Khawla A Rahim
;
Eric Olinger
;
Elisa Molinari
, et al.
소스
Hum Mutat
Open Access (OpenAIRE)
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7 .
Novel pathogenic MAPKBP1 variant in a family with nephronophthisis
저자
by
Alya Qari
;
Hamad Al-Zaidan
;
John A. Sayer
;
Maged H. Hussein
;
Faiqa Imtiaz
, et al.
소스
Clinical Kidney Journal
Open Access (OpenAIRE)
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7 .
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
저자
by
Nabil Moghrabi
;
Zuhair N. Al-Hassnan
;
Faiqa Imtiaz
;
Eissa Faqeih
;
Fuad Almutairi
, et al.
소스
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 18, Iss, Pp 22-29 (2019)
Open Access (OpenAIRE)
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7 .
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
저자
by
Mais Hashem
;
Moeenaldeen Al-Sayed
;
Mohamed H Al-Hamed
;
Maha Alnemer
;
Wenkai Han
, et al.
소스
Am J Hum Genet
Full Text (ScienceDirect)
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7 .
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
저자
by
Mohamed H Al-Hamed
;
John A. Sayer
;
Qamariya Ambusaidi
;
Wafaa Ali
;
Faiqa Imtiaz
, et al.
소스
Journal of nephrology
. 34(3)
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7 .
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease
저자
by
Mohammad Al-Amoudi
;
Faiqa Imtiaz
;
Mohammad Al-Owain
;
Nouf S. Al-Numair
;
Mohamed H Al-Hamed
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 17-23 (2017)
Open Access (OpenAIRE)
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7 .
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
저자
by
Abeer E. Mustafa
;
Batoul Baz
;
Amna Magrashi
;
Tariq Faquih
;
Eman A.A. Al Yemni
, et al.
소스
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
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