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Dilek Colak

Showing results (131-140 of 145) with videos related to

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Clinical Genetics|January 28, 2021
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotypeAlbandary Al-Bakheet, Mohamed Tohary, Sameena Khan, et al.
Cells|October 14, 2022
A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi FamiliesMazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
Molecular Cytogenetics|February 9, 2018
Identification of novel genomic imbalances in Saudi patients with congenital heart diseaseZuhair N Al-Hassnan, Waad Albawardi, Faten Almutairi, et al.
The Journal of Pathology|July 28, 2015
Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathyFallou Wade, Pearl Quijada, Kamar Mohamed Adib Al-Haffar, et al.
Human Genetics|January 31, 2016
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trialNicola G Ghazi, Emad B Abboud, Sawsan R Nowilaty, et al.
Journal of Medical Genetics|September 2, 2016
<i>KCNA4</i> deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityNamik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, et al.
Journal of Medical Genetics|December 26, 2014
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorderZuhair N Al-Hassnan, Mazhor Al-Dosary, Majid Alfadhel, et al.
Omics : a Journal of Integrative Biology|February 28, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease PathwaysMazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, et al.
Annals of Neurology|January 4, 2012
A novel X-linked disorder with developmental delay and autistic featuresNamik Kaya, Dilek Colak, Albandary Albakheet, et al.
Pageof 15

Showing results (131-140 of 145) with videos related to

Sort By:
Pageof 15
Clinical Genetics|January 28, 2021
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotypeAlbandary Al-Bakheet, Mohamed Tohary, Sameena Khan, et al.
Cells|October 14, 2022
A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi FamiliesMazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
Molecular Cytogenetics|February 9, 2018
Identification of novel genomic imbalances in Saudi patients with congenital heart diseaseZuhair N Al-Hassnan, Waad Albawardi, Faten Almutairi, et al.
The Journal of Pathology|July 28, 2015
Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathyFallou Wade, Pearl Quijada, Kamar Mohamed Adib Al-Haffar, et al.
Human Genetics|January 31, 2016
Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trialNicola G Ghazi, Emad B Abboud, Sawsan R Nowilaty, et al.
Journal of Medical Genetics|September 2, 2016
<i>KCNA4</i> deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityNamik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, et al.
Journal of Medical Genetics|December 26, 2014
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorderZuhair N Al-Hassnan, Mazhor Al-Dosary, Majid Alfadhel, et al.
Omics : a Journal of Integrative Biology|February 28, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease PathwaysMazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, et al.
Annals of Neurology|January 4, 2012
A novel X-linked disorder with developmental delay and autistic featuresNamik Kaya, Dilek Colak, Albandary Albakheet, et al.
Pageof 15