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1 . Academic Journal
Genetics of ataxia telangiectasia in a highly consanguineous population.
저자
by
Al‐Muhaizea, Mohammed A.
;
Aldeeb, Hanouf
;
Almass, Rawan
;
Jaber, Hadeel
;
Binhumaid, Felwa
, et al.
소스
Annals of Human Genetics
. Jan2022, Vol. 86 Issue 1, p34-44. 11p.
Web of Science
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7 . Academic Journal
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
저자
by
Salih, Mustafa A.
;
Hamad, Muddathir H.
;
Savarese, Marco
;
Alorainy, Ibrahim A.
;
Al-Jarallah, Abdullah S.
, et al.
소스
Genetic Testing & Molecular Biomarkers
. Dec2021, Vol. 25 Issue 12, p757-764. 8p.
Web of Science
Scopus
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7 . Academic Journal
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.
저자
by
Al‐Bakheet, Albandary
;
Tohary, Mohamed
;
Khan, Sameena
;
Chedrawi, Aziza
;
Edrees, Alaa
, et al.
소스
Clinical Genetics
. May2021, Vol. 99 Issue 5, p724-731. 8p.
Web of Science
Scopus
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7 . Academic Journal
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
저자
by
Aldosary, Mazhor
;
Al-Bakheet, AlBandary
;
Al-Dhalaan, Hesham
;
Almass, Rawan
;
Alsagob, Maysoon
, et al.
소스
OMICS: A Journal of Integrative Biology
. Mar2020, Vol. 24 Issue 3, p160-171. 12p.
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7 . Academic Journal
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
저자
by
Kaya, Namik
;
Alsagob, Maysoon
;
D'Adamo, Maria Cristina
;
Al-Bakheet, Albandary
;
Hasan, Sonia
, et al.
소스
Journal of Medical Genetics; Nov2016, Vol. 53 Issue 11, p786-792, 7p
Full Text (BMJ Journals)
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7 . Academic Journal
Breast stromal fibroblasts from histologically normal surgical margins are pro-carcinogenic
저자
by
Al-Rakan, Maha A
;
Colak, Dilek
;
Hendrayani, Siti-Faujiah
;
Al-Bakheet, Albandary
;
Al-Mohanna, Falah H
, et al.
소스
The Journal of Pathology
. Dec 01, 2013 231(4):457-465
Full Text (Wiley)
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7 . Academic Journal
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia
저자
by
Kaya, Namik
;
Colak, Dilek
;
Al-Bakheet, Albandary
;
Al-Younes, Banan
;
Tulbah, Sahar
, et al.
소스
Gene
. Jan2013, Vol. 513 Issue 2, p297-300. 4p.
Full Text (ScienceDirect)
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7 . Academic Journal
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
저자
by
Alsagob, Maysoon
;
Salih, Mustafa A.
;
Hamad, Muddathir H. A.
;
Al-Yafee, Yusra
;
Al-Zahrani, Jawaher
, et al.
소스
Molecular Cytogenetics
. 12(1)
Open Access (BioMed Central)
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7 . Academic Journal
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII
저자
by
Kaya, Namik
;
Aldhalaan, Hesham
;
Al-Younes, Banan
;
Colak, Dilek
;
Shuaib, Taghreed
, et al.
소스
American Journal Of Medical Genetics - B: Neuropsychiatric Genetics
. Dec 01, 2011 156(7):826-834
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7 . Academic Journal
A Novel Interstitial Microdeletion of 7q22.1-7q22.3 Detected by Array Comparative Genomic Hybridization
저자
by
Al-Hassnan, Zuhair N.
;
Al-Bakheet, AlBandary
;
Abu-Dheim, Nada
;
Al-Younes, Banan
;
Colak, Dilek
, et al.
소스
American Journal Of Medical Genetics - A
. Dec 01, 2011 155(12):3128-3131
Web of Science
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