Search Results - "Albash B"

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Authors: Shamseldin HE Marafi D AlMuhaizea M et al.

Source: Scientific reports [Sci Rep] 2026 Jul 15. Date of Electronic Publication: 2026 Jul 15.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.

Authors: Alsharhan H Alostad W Ali AA et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2026 Jul; Vol. 14 (7), pp. e70274.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.

Authors: Alghamdi M Alahmad A Alaboudi M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jun; Vol. 148 (2), pp. 109867. Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Authors: Alhammad F Ali NY Alkanderi S et al.

Source: Global medical genetics [Glob Med Genet] 2026 May 24; Vol. 13 (2), pp. 100110. Date of Electronic Publication: 2026 May 24 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Thieme Country of Publication: Netherlands NLM ID: 101769583 Publication Model: eCollection Cited Medium: Internet ISSN: 2699-9404 (Electronic) Linking ISSN: 26999404 NLM ISO Abbreviation: Glob Med Genet Subsets: PubMed not MEDLINE

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Authors: Kaiyrzhanov R Thompson K Efthymiou S et al.

Source: Brain communications [Brain Commun] 2024 Dec 17; Vol. 7 (1), pp. fcae453. Date of Electronic Publication: 2024 Dec 17 (Print Publication: 2025).

Publication Type: Journal Article; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

Authors: Kazem L Al-Qabandi W Albash B et al.

Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Oct 15; Vol. 45, pp. 101269. Date of Electronic Publication: 2025 Oct 15 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

Authors: Alsharhan H Alkurd F Ebrahim MA et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64148. Date of Electronic Publication: 2025 Jun 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

Authors: Aburezq M Alahmad A Alsafi R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 05; Vol. 18 (1), pp. 271. Date of Electronic Publication: 2023 Sep 05.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Trans-2,3-enoyl-CoA reductase-like-related catecholaminergic polymorphic ventricular tachycardia with regular ventricular tachycardia and response to flecainide.

Authors: Ebrahim MA Alkhabbaz AA Albash B et al.

Source: Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2023 Sep; Vol. 34 (9), pp. 1996-2001. Date of Electronic Publication: 2023 Jul 20.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Blackwell Country of Publication: United States NLM ID: 9010756 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8167 (Electronic) Linking ISSN: 10453873 NLM ISO Abbreviation: J Cardiovasc Electrophysiol Subsets: MEDLINE

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

Authors: Smits DJ Schot R Krusy N et al.

Source: Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3528-3541.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.

Authors: Alfattal R Alfarhan M Algaith AM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1401-1411. Date of Electronic Publication: 2023 Feb 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Authors: Alsharhan H Ahmed AA Abdullah M et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2025 Feb 28; Vol. 11 (1). Date of Electronic Publication: 2025 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Authors: Jiang H Alahmad A Fu S et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 264-277. Date of Electronic Publication: 2022 Jan 08.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.

Authors: Aljassar RW Shen Q Albash B et al.

Source: Genetics in medicine open [Genet Med Open] 2024 Jul 16; Vol. 2, pp. 101868. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Authors: Alzayed NT Alzuabi AH Alqusaimi RA et al.

Source: Neurology. Genetics [Neurol Genet] 2024 May 22; Vol. 10 (3), pp. e200156. Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Authors: Saoura M Powell CA Kopajtich R et al.

Source: Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. Date of Electronic Publication: 2019 Jun 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Authors: Kaiyrzhanov R Mohammed SEM Maroofian R et al.

Source: American journal of human genetics [Am J Hum Genet] 2022 Sep 01; Vol. 109 (9), pp. 1692-1712.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.

Authors: Alsharhan H Ahmed AA Ali NM et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2021 Aug 17; Vol. 7 (3). Date of Electronic Publication: 2021 Aug 17.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

Authors: Al-Hassnan ZN Almesned A Tulbah S et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2020 Oct; Vol. 13 (5), pp. 504-514. Date of Electronic Publication: 2020 Sep 01.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Authors: Albash B Imtiaz F Al-Zaidan H et al.

Source: European journal of pediatrics [Eur J Pediatr] 2014 May; Vol. 173 (5), pp. 647-53. Date of Electronic Publication: 2013 Dec 11.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE