Salem Alawbathani
Rostock, MV 18055, Germany
Last Updated: 09/26/2026
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Found 18 publications
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 31, 2023
A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.
Journal: Clinical genetics
Published: November 09, 2022
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 11, 2022
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Journal: Annals of human genetics
Published: October 07, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Journal: American journal of human genetics
Published: June 11, 2022
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
Journal: Clinical genetics
Published: January 17, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 29, 2021
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.
Journal: Molecular cytogenetics
Published: October 23, 2021
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Journal: Clinical genetics
Published: June 28, 2021
A teaching tool about the fickle p value and other statistical principles based on real-life data.
Journal: Naunyn-Schmiedeberg's archives of pharmacology
Published: August 28, 2020
Last Updated: 09/26/2026