Publications by authors named "Mohammad Alowain"

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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Mohammad Alowain

Clin Dysmorphol· April 2024

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Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, Zohair Al-Halees, Jaak Jaeken

JIMD Rep· March 2023

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta

Genet Med· January 2023

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar

Brain· April 2022

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan

Am J Hum Genet· December 2021

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan

Am J Hum Genet· June 2021

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Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Hessa S Alsaif, Mohammad Al-Owain, Martin E Barrios-Llerena, Ghada Gosadi, Yousef Binamer

Am J Hum Genet· November 2019

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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.
Dorota Monies, Cathrine Broberg Vågbø, Mohammad Al-Owain, Suzan Alhomaidi, Fowzan S Alkuraya

Am J Hum Genet· June 2019

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Twenty novel mutations in , and genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan

Mol Genet Metab Rep· June 2017

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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa

Am J Med Genet A· April 2017

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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Anas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani

Hum Mutat· October 2012

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A novel X-linked disorder with developmental delay and autistic features.
Namik Kaya, Dilek Colak, Albandary Albakheet, Mohammad Al-Owain, Nada Abu-Dheim

Ann Neurol· April 2012

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GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Namik Kaya, Mohammad Al-Owain, Nada Abudheim, Jawaher Al-Zahrani, Dilek Colak

Am J Med Genet A· June 2011

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ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.
Namik Kaya, Saleh Al-Muhsen, Bandar Al-Saud, Albandary Al-Bakheet, Dilek Colak

J Clin Immunol· April 2011

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Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Namik Kaya, Mohammad Al-Owain, Albandary Albakheet, Dilek Colak, Ali Al-Odaib

Eur J Med Genet· March 2009

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Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Namik Kaya, Faiqa Imtiaz, Dilek Colak, Moeenaldeen Al-Sayed, Ali Al-Odaib

Genet Med· September 2008

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Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization.
M Anwar Iqbal, Mohammad Al-Owain

Am J Med Genet A· August 2007

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