Malak Al Ghamdi

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Laura van Berge, Eline M. Hamilton, Tarja Linnankivi et al. · Brain · 2014 · 105 citations · Full text

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Developmental Anomaly, Developmental Disorder Characterized, Developmental Biology +6

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

Alexandre Janer, Clara DM van Karnebeek, Florin Sasarman et al. · European Journal of Human Genetics · 2015 · 34 citations · Full text

Neonatal Lactic Acidosis, Inherited Metabolic Disease, Pediatrics +4

A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations

Malak Al Ghamdi, Mohammad M. Al‐Qattan, Ali Hadadi et al. · European Journal of Medical Genetics · 2019 · 12 citations