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 · 324 citations

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 · 155 citations · Full text

Down Syndrome, Severe Growth Failure, Newborn Period +15

Multiple displacement amplification on single cell and possible PGD applications

Ali Hellani, Serdar Coşkun, Moncef Benkhalifa et al. · Molecular Human Reproduction · 2004 · 137 citations · Full text

Multiple Displacement Amplification, Engineering, Genetics +16

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 · 136 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

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

Type Ii, Developmental Biology, Growth Hormone +15