Abdullah Al‐Ashwal

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Three New Mutations in the Gene for the Growth Hormone (GH)-Releasing Hormone Receptor in Familial Isolated GH Deficiency Type IB¹

Roberto Salvatori, Xiaoguang Fan, Rosa Espigares-Martin et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 106 citations · Full text

Medicine, Endocrinology, Genetics +17

Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function

Peter J. Malloy, Rong Xu, Lihong Peng et al. · Endocrinology · 2004 · 68 citations

Life Sciences, Genetics, Molecular Genetics +17

Wolcott‐Rallison syndrome in two siblings with isolated central hypothyroidism

Bassam Bin‐Abbas, Abdulmohsen N. Al-Mulhim, Abdullah Al‐Ashwal · American Journal of Medical Genetics · 2002 · 40 citations

Medicine, Endocrinology, Pediatrics +15

Surgical management of severe neonatal hyperparathyroidism: one center's experience

Saud Al-Shanafey, Rana Al-Hosaini, Abdullah Al‐Ashwal et al. · Journal of Pediatric Surgery · 2010 · 40 citations

Medicine, Pediatrics, Surgery +14