Fatima Alfadhli

Clinical and biochemical features associated with <i>BCS1L</i> mutation

Mohammed Al‐Owain, Dilek Çolak, Albandary AlBakheet et al. · Journal of Inherited Metabolic Disease · 2012 · 37 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

Ranad Shaheen, Amal Hashem, Ghada M. H. Abdel‐Salam et al. · Human Genetics · 2016 · 37 citations

Life Sciences, Genetics, Neuroscience +7

Biallelic loss of function variant in the unfolded protein response gene <i>PDIA6</i> is associated with asphyxiating thoracic dystrophy and <scp>neonatal‐onset</scp> diabetes

Fatima Alfadhli, Manal Afqi, Mona Hamza Sairafi et al. · Clinical Genetics · 2021 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Nisha Patel, Hanan E. Shamseldin, Nadia Sakati et al. · The American Journal of Human Genetics · 2017 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Clinical and genetic characterization of patients segregating variants in <i>KPTN</i>, <i>MINPP1</i>, <i>NGLY1</i>, <i>AP4B1</i>, and <i>SON</i> underlying neurodevelopmental disorders: Genetic and phenotypic expansion

Asmat Ullah, Abid Ali Shah, Majed Alluqmani et al. · International Journal of Developmental Neuroscience · 2022 · 12 citations · Full text

Life Sciences, Genetics, Neuroscience +17