SELF-MUTILATIVE BEHAVIOR IN THE CORNELIA DE LANGE SYNDROMEBRYSON Y; SAKATI N; NYHAN W. L et al.AMER. J. MENT. DEFICIENCY. 1971, Vol 76, Num 3, pp 319-324Article

MARBLE BRAIN DISEASE: RECESSIVE OSTEOPETROSIS, RENAL TUBULAR ACIDOSIS AND CEREBRAL CALCIFICATION IN THREE SAUDI ARABIAN FAMILIESOHLSSON A; STARK G; SAKATI N et al.1980; DEVELOP. MED. CHILD NEUROL.; GBR; DA. 1980; VOL. 22; NO 1; PP. 72-84; ABS. FRE/GER/SPA; BIBL. 13 REF.Article

ATYPICAL ICHTHYOSIFORM ERYTHRODERMA AND CONGENITAL NEUROSENSORY DEUFNESS - A DISTINCT SYNDROME.SENTER TP; JONES KL; SAKATI N et al.1978; J. PEDIATR.; U.S.A.; DA. 1978; VOL. 92; NO 1; PP. 68-72; BIBL. 14 REF.Article

Pituitary gland enlargement in primary hypothyroidism : a report of 5 cases with follow-up dataMOHAMMED AHMED; MOHAMMED BANNA; SAKATI, N et al.Hormone research. 1989, Vol 32, Num 5-6, pp 188-192, issn 0301-0163, 5 p.Article

Lingual thyroid: diagnosis and treatmentPRADASH KANSAL; SAKATI, N; RIFAI, A et al.Archives of internal medicine (1960). 1987, Vol 147, Num 11, pp 2046-2048, issn 0003-9926Article

A SYNDROME OF POLYDACTYLY-SYNDACTYLY AND TRIPHALANGEAL THUMBS IN THREE GENERATIONS = UN SYNDROME ASSOCIANT POLYDACTYLIE-SYNDACTYLIE ET POUCES A TROIS PHALANGES SUR TROIS GENERATIONSYUJNOVSKY O; AYALA D; VINCITORIO A et al.1974; CLIN. GENET.; DENM.; DA. 1974; VOL. 6; NO 1; PP. 51-59; BIBL. 10REF.Article

Multiple dysmorphic features and pancytopenia: a new syndrome?SACKEY, K; SAKATI, N; AUR, R. J. A et al.Clinical genetics. 1985, Vol 27, Num 6, pp 606-610, issn 0009-9163Article

Gender reversal in 46XX congenital virilizing adrenal hyperplasiaSRIPATHI, V; AHMED, S; SAKATI, N et al.British journal of urology (Print). 1997, Vol 79, Num 5, pp 785-789, issn 0007-1331Article

Osteodysplastic variant of primordial dwarfismSHEBIB, S; HUGOSSON, C; SAKATI, N et al.American journal of medical genetics. 1991, Vol 40, Num 2, pp 146-150, issn 0148-7299Article

Isovaleric acidemia appearing as diabetic ketoacidosisATTIA, N; SAKATI, N; AL ASHWAL, A et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 1, pp 85-86, issn 0141-8955Article

A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literatureIQBAL, M. A; MOHAMMED ZEIN SEID AHMED; WU, D et al.American journal of medical genetics. 1997, Vol 70, Num 2, pp 174-178, issn 0148-7299Article

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiencyCOGAN, J. D; PHILLIPS, J. A; SAKATI, N et al.The Journal of clinical endocrinology and metabolism. 1993, Vol 76, Num 5, pp 1224-1228, issn 0021-972XArticle

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome and osteopetrosis with renal tubular acidosis and cerebral calcificationSLY, W. S; WHYTE, M. P; SAKATI, N et al.The New England journal of medicine. 1985, Vol 313, Num 3, pp 139-145, issn 0028-4793Article

Anophthalmia with syndactyly and limb anomalies, Waardenburg typeMUNEERA AL-HUSAIN; SAKATI, N. A; NYHAN, W. L et al.Dysmorphology and clinical genetics. 1992, Vol 6, Num 4, pp 191-195, issn 0893-6633Article

Congenital adrenal hyperplasia : pregnancy in a bearded ladyJOHANSEN, K; WOODHOUSE, N. J. Y; BISSADA, N et al.Saudi medical journal. 1989, Vol 10, Num 3, pp 223-225, issn 0379-5284, 3 p.Article

Infantile systemic hyalinosis : A fatal disorder commonly diagnosed among ArabsAL-MAYOUF, S. M; ALMEHAIDIB, A; BAHABRI, S et al.Clinical and experimental rheumatology (Testo stampato). 2005, Vol 23, Num 5, pp 717-720, issn 0392-856X, 4 p.Article

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic : Evidence for an ancestral founder mutation and locus refinementDIAZ, G. A; GELB, B. D; ALI, F et al.American journal of medical genetics. 1999, Vol 85, Num 1, pp 48-52, issn 0148-7299Article

Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptorWOJCIK, J; BERG, M. A; ESPOSITO, N et al.The Journal of clinical endocrinology and metabolism. 1998, Vol 83, Num 12, pp 4481-4489, issn 0021-972XArticle

Bone marrow transplantation for infantile malignant osteopetrosisSOLH, H; MARTIN DA CUNHA, A; GIRI, N et al.Journal of pediatric hematology/oncology. 1995, Vol 17, Num 4, pp 350-355, issn 1077-4114Article

Persistent hyperinsulinemic hypoglycemia of infancy : experience with 28 casesAL-RABEEAH, A; AL-ASHWAL, A; AL-HERBISH, A et al.Journal of pediatric surgery. 1995, Vol 30, Num 8, pp 1119-1121, issn 0022-3468Conference Paper

Smith―Lemli―Opitz syndrome among ArabsAI-OWAIN, M; LMTIAZ, F; FAQEIH, E et al.Clinical genetics. 2012, Vol 82, Num 2, pp 165-172, issn 0009-9163, 8 p.Article

Different faces of non-autoimmune diabetes of infancyATTIA, N; ZAHRANI, A; SAIF, R et al.Acta paediatrica (Oslo). 1998, Vol 87, Num 1, pp 95-97, issn 0803-5253Article

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant ricketsLIN, N. U.-T; MALLOY, M. J; SAKATI, N et al.The Journal of clinical endocrinology and metabolism. 1996, Vol 81, Num 7, pp 2564-2569, issn 0021-972XArticle

The multiple manifestations of the encephalocraniocutaneous lipomatosis syndromeOSSAMA AL-MEFTY; FOX, J. L; SAKATI, N et al.Child's nervous system (Print). 1987, Vol 3, Num 2, pp 132-134, issn 0256-7040Article

One-stage complete genital reconstruction for patients with congenital adrenal hyperplasiaBISSADA, N. K; SAKATI, N; WOODHOUSE, N. J. Y et al.The Journal of urology. 1987, Vol 137, Num 4, pp 703-705, issn 0022-5347Article