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1 . Academic Journal
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
저자
by
Altassan, Ruqaiah
;
AlQudairy, Hanan
;
AlJebreen, Sarah
;
AlMuhaizea, Mohammed
;
Al‐Hindi, Hindi
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-5, 5p
Web of Science
Scopus
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7 . Academic Journal
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
저자
by
Albakheet, AlBandary
;
Almuallami, Duaa
;
Almass, Rawan
;
Qari, Alya
;
Kenana, Rosan
, et al.
소스
Clinical Dysmorphology; Apr2024, Vol. 33 Issue 2, p55-62, 8p
Full Text (LWW)
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7 . Periodical
Novel UBE3Bmutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
저자
by
Albakheet, AlBandary
;
Almuallami, Duaa
;
Almass, Rawan
;
Qari, Alya
;
Kenana, Rosan
, et al.
소스
Clinical Dysmorphology; April 2024, Vol. 33 Issue: 2 p55-62, 8p
Full Text (LWW)
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7 . Academic Journal
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia
저자
by
Kaya, Namik
;
Al-Owain, Mohammad
;
AlBakheet, AlBandary
;
Colak, Dilek
;
Al-Odaib, Ali
, et al.
소스
In
European Journal of Medical Genetics
2008 51(6):558-565
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7 . Academic Journal
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.
저자
by
AlBakheet, Albandary
;
AlQudairy, Hanan
;
Alkhalifah, Joud
;
Almoaily, Sheikhah
;
Kaya, Namik
, et al.
소스
Frontiers in Genetics; 1/26/2023, Vol. 14, p1-7, 7p, 3 Graphs
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7 . Academic Journal
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways.
저자
by
Daghestani, Maha H.
;
Alqahtani, Huda A.
;
AlBakheet, AlBandary
;
Al Deery, Mashael
;
Awartani, Khalid A.
, et al.
소스
Journal of Clinical Medicine
. Dec2022, Vol. 11 Issue 23, p6941. 12p.
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7 . Academic Journal
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
저자
by
Aldosary, Mazhor
;
Alsagob, Maysoon
;
AlQudairy, Hanan
;
González-Álvarez, Ana C.
;
Arold, Stefan T.
, et al.
소스
Cells (2073-4409)
. Oct2022, Vol. 11 Issue 19, p3154. 15p.
Web of Science
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7 . Academic Journal
Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum.
저자
by
Alomrani, Basmah
;
Javed, Murid
;
Ali, Hani S. H. Mohammed
;
Abo-Aba, Salah E. M.
;
AlBakheet, Albandary
, et al.
소스
Journal of Contemporary Medical Sciences; Jan/Feb2022, Vol. 8 Issue 1, p1-17, 17p
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7 . Academic Journal
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
저자
by
Aldosary, Mazhor
;
Baselm, Shahad
;
Abdulrahim, Maha
;
Almass, Rawan
;
Alsagob, Maysoon
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Jul2021, Vol. 60 Issue 1, p75-87, 13p
Open Access (Wiley)
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7 . Academic Journal
Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system
저자
by
Chedrawi, Aziza K.
;
Al-Hassnan, Zuhair N.
;
Al-Muhaizea, Muhammad
;
Colak, Dilek
;
Al-Younes, Banan
, et al.
소스
In
Brain and Development
May 2012 34(5):400-404
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