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1

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency i..:

Mohamed, Feda E. ; Ali, Amanat ; Al-Tenaiji, Amal..
Journal of Molecular Neuroscience. 72 (2022) 6 - p. 1322-1333 , 2022

Link: https://doi.org/10.1007/..

2

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine. 23 (2021) 6 - p. 1158-1162 , 2021

Link: https://doi.org/10.1038/..

3

SCUBE3 loss-of-function causes a recognizable recessive dev..:

Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820739/. , 2021

Link: http://www.ncbi.nlm.nih...

4

P699: Identification of a novel pathogenic variant in SERPI..:

Zvereff, Val ; El Moneim Attia, Azza Abd ; Al Tenaiji, Amal...
Genetics in Medicine Open. 2 (2024) - p. 101603 , 2024

Link: https://doi.org/10.1016/..

5

Clinical, neuroimaging, and molecular spectrum ofTECPR2‐ass..:

Neuser, Sonja ; Brechmann, Barbara ; Heimer, Gali...
Human Mutation. 42 (2021) 6 - p. 762-776 , 2021

Link: https://doi.org/10.1002/..

6

Clinical, Biochemical, and Genetic Heterogeneity in Glutari..:

Ali, Amanat ; Almesmari, Fatmah Saeed Ali ; Dhahouri, Nahid Al...
Genes. 12 (2021) 9 - p. 1334 , 2021

Link: https://doi.org/10.3390/..

7

Microcephaly and intracranial calcifications: Not always TO..:

Kumar, Gurinder ; Al Zoebie, Lama ; Duke, Christopher...
Journal of Paediatrics and Child Health. 55 (2019) 8 - p. 1000-1001 , 2019

Link: https://doi.org/10.1111/..

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