Search Results - "Basiruzzaman M"

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.

Authors: Akter H Rahaman MA Eshaque TB et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101282. Date of Electronic Publication: 2024 Sep 26.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.

Authors: Akter H Rahman MM Sarker S et al.

Source: Frontiers in genetics [Front Genet] 2023 Mar 07; Vol. 14, pp. 955631. Date of Electronic Publication: 2023 Mar 07 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder.

Authors: Rahaman MA Lopa M Uddin KMF et al.

Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Jul; Vol. 51 (7), pp. 2392-2401.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.

Authors: Akter H Hossain MS Dity NJ et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2021 Feb 16; Vol. 6 (1), pp. 14. Date of Electronic Publication: 2021 Feb 16.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

Authors: Akter H Sultana N Martuza N et al.

Source: BMC medical genetics [BMC Med Genet] 2019 Sep 02; Vol. 20 (1), pp. 150. Date of Electronic Publication: 2019 Sep 02.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.

Authors: Rahman MM Uddin KF Al Jezawi NK et al.

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00954. Date of Electronic Publication: 2019 Sep 01.

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

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