author-photo

Shahida Moosa

University of Göttingen

11

Papers

111

Citations

Citation Trend

Filter By

Papers (8) Sort By

Journal Conference Others

Genomic basis of syndromic short stature in an Algerian patient cohort.

2021 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (0)
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

2019 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (18)
Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta

2018 Annals of Human Genetics
Show All
- Source
- Cite
- Save
Citations (6)
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome

2017 Molecular Genetics & Genomic Medicine
Show All
- Source
- Cite
- Save
Citations (6)
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

2017 Clinical Genetics
Show All
- Source
- Cite
- Save
Citations (1)
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2

2017 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (12)
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.

2016 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (5)
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum

2016 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (13)