Nadia Sakati

Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

William S. Sly, Michael P. Whyte, Vasantha Sundaram et al. · New England Journal of Medicine · 1985 · 328 citations

Life Sciences, Biochemistry, Genetics +6

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

Sami A. Sanjad, Nadia Sakati, Yousef K. Abu‐Osba et al. · Archives of Disease in Childhood · 1991 · 157 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Multiple displacement amplification on single cell and possible PGD applications

Ali Hellani, Serdar Coşkun, Moncef Benkhalifa et al. · Molecular Human Reproduction · 2004 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al‐Saif, Abdulaziz Alsemari et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

Joy D. Cogan, John A. Phillips, S S Schenkman et al. · The Journal of Clinical Endocrinology & Metabolism · 1994 · 112 citations

Life Sciences, Endocrinology, Genetics +17