Abubakar Moawia

Ulm, BW, Germany

Last Updated: 09/26/2026

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Found 15 publications

Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing.

Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing.

Journal: Molecular and cellular pediatrics

Published: January 15, 2026

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.

Journal: Molecular and cellular pediatrics

Published: September 19, 2025

The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.

The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant.

Journal: Molecular and cellular pediatrics

Published: September 01, 2025

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Journal: Leukemia

Published: November 11, 2024

Immunodeficiency-related high-grade B-cell lymphoma with 11q aberration: Further evidence for a lymphoma entity from a patient with simultaneous papillary renal cell carcinoma following pediatric kidney transplant.

Immunodeficiency-related high-grade B-cell lymphoma with 11q aberration: Further evidence for a lymphoma entity from a patient with simultaneous papillary renal cell carcinoma following pediatric kidney transplant.

Journal: Pathology, research and practice

Published: July 26, 2024

Correction: Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells.

Correction: Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells.

Journal: RSC advances

Published: November 18, 2022

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.

Journal: The International journal of neuroscience

Published: June 01, 2022

Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells.

Click functionalized biocompatible gadolinium oxide core-shell nanocarriers for imaging of breast cancer cells.

Journal: RSC advances

Published: January 17, 2022

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Journal: Genes

Published: August 23, 2021

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 19, 2021

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Journal: Molecular genetics & genomic medicine

Published: January 30, 2020

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

Journal: The Journal of clinical investigation

Published: November 16, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026