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Dilek Colak

Showing results (91-100 of 145) with videos related to

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Journal of Clinical Medicine|December 11, 2022
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 PathwaysMaha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, et al.
Neuromuscular Disorders : NMD|July 4, 2020
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndromeMohammad A Al-Muhaizea, Laila AlQuait, Afnan AlRasheed, et al.
Communications Biology|July 17, 2021
Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosisNadya Al-Yacoub, Dilek Colak, Salma Awad Mahmoud, et al.
Gene|October 16, 2012
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemiaNamik Kaya, Dilek Colak, Albandary Al-Bakheet, et al.
Clinical Dysmorphology|February 27, 2024
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous populationAlBandary Albakheet, Duaa Almuallami, Rawan Almass, et al.
BMC Neurology|May 27, 2020
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)Mohammed Z Seidahmed, Muddathir H Hamad, Albandary AlBakheet, et al.
Molecular Cytogenetics|April 5, 2011
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defectsJawaher Al-Zahrani, Naji Al-Dosari, Nada Abudheim, et al.
Frontiers in Psychiatry|November 15, 2024
A novel missense mutation in <i>ISCA2</i> causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, et al.
Molecular Cancer|June 15, 2010
Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and oldDilek Colak, Muhammad A Chishti, Al-Bandary Al-Bakheet, et al.
Human Mutation|August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfismAnas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.
Pageof 15

Showing results (91-100 of 145) with videos related to

Sort By:
Pageof 15
Journal of Clinical Medicine|December 11, 2022
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 PathwaysMaha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, et al.
Neuromuscular Disorders : NMD|July 4, 2020
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndromeMohammad A Al-Muhaizea, Laila AlQuait, Afnan AlRasheed, et al.
Communications Biology|July 17, 2021
Mutation in FBXO32 causes dilated cardiomyopathy through up-regulation of ER-stress mediated apoptosisNadya Al-Yacoub, Dilek Colak, Salma Awad Mahmoud, et al.
Gene|October 16, 2012
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemiaNamik Kaya, Dilek Colak, Albandary Al-Bakheet, et al.
Clinical Dysmorphology|February 27, 2024
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous populationAlBandary Albakheet, Duaa Almuallami, Rawan Almass, et al.
BMC Neurology|May 27, 2020
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)Mohammed Z Seidahmed, Muddathir H Hamad, Albandary AlBakheet, et al.
Molecular Cytogenetics|April 5, 2011
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defectsJawaher Al-Zahrani, Naji Al-Dosari, Nada Abudheim, et al.
Frontiers in Psychiatry|November 15, 2024
A novel missense mutation in <i>ISCA2</i> causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, et al.
Molecular Cancer|June 15, 2010
Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and oldDilek Colak, Muhammad A Chishti, Al-Bandary Al-Bakheet, et al.
Human Mutation|August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfismAnas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.
Pageof 15