Suchergebnisse - "Moawia, Abubakar"

PubPharm (19)

1

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

enthalten in: The International journal of neuroscience | 2024

von Zulfiqar, S. | Moawia, A. | Waseem, S. | +5

2

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

enthalten in: RSC advances | 2022

von Siribbal, S. | Ilyas, S. | Renner, A. | +7

ErratumFor: RSC Adv. 2022 Nov 8;12(49):31830-31845. - PMID 36380928

3

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

enthalten in: RSC advances | 2022

von Siribbal, S. | Ilyas, S. | Renner, A. | +7

ErratumIn: RSC Adv. 2022 Dec 2;12(53):34639. - PMID 36545584

4

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

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2022

von Fazeli, W. | Bamborschke, D. | Moawia, A. | +14

5

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

enthalten in: Genes | 2021

von Waseem, S. | Moawia, A. | Budde, B. | +13

6

On the differential diagnosis of neuropathy in neurogenetic disorders

enthalten in: Medizinische Genetik | 2020

von Cirak, S. | Daimagüler, H. | Moawia, A. | +2

7

On the differential diagnosis of neuropathy in neurogenetic disorders

enthalten in: Medizinische Genetik | 2020

von Cirak, S. | Daimagüler, H. | Moawia, A. | +2

8

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

enthalten in: Molecular genetics & genomic medicine | 2020

von Rasool, S. | Baig, J. | Moawia, A. | +24

9

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

enthalten in: Molecular Genetics & Genomic Medicine | 2020

von Rasool, S. | Baig, J. | Moawia, A. | +24

10

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

enthalten in: The Journal of clinical investigation | 2018

von Braun, D. | Lovric, S. | Schapiro, D. | +55

CommentIn: Nat Rev Nephrol. 2018 Dec;14(12):720. - PMID 30250309