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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

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

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

Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiencySANJAD, S. A; KADDOURA, R. E; NAZER, H. M et al.American journal of diseases of children (1960). 1993, Vol 147, Num 9, pp 957-959, issn 0002-922XArticle

Concurrence of Robinow syndrome and crigler-Najar syndrome in two offspring of first cousinsNAZER, H; GUNASEKARAN, R. S; SAKATI, N. A et al.American journal of medical genetics. 1990, Vol 37, Num 4, pp 516-518, issn 0148-7299Article

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

Genetic linkage studies of X-linked hypophosphataemic rickets in a Saudi Arabian familyTHAKKER, R. V; FARMERY, M. R; SAKATI, N. A et al.Clinical endocrinology (Oxford. Print). 1992, Vol 37, Num 4, pp 338-343, issn 0300-0664Article

Leber's congenital amaurosis associated with familial juvenile nephronophtisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)MARTIN, C. L; LACHMAN, R. S; SAKATI, N. A et al.American journal of ophthalmology. 1984, Vol 97, Num 2, pp 233-239, issn 0002-9394Article

Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomaliesMARSDEN, D; NYHAN, W; SAKATI, N. O et al.American journal of medical genetics. 1994, Vol 52, Num 3, pp 334-338, issn 0148-7299Conference Paper

Cystic fibrosis in Saudi ArabiaNAZER, H; RIFF, E; SAKATI, N et al.European journal of pediatrics. 1989, Vol 148, Num 4, pp 330-332, issn 0340-6199Article

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

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

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

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

Hyperinsulinism and hyperammonaemiaAL-SHAMSAN, L; AL-ESSA, M; AL-MUTAIR, A et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 6, pp 671-673, issn 0141-8955Article

Familial growth hormone deficiency : a model of dominant and recessive mutants affecting a monomeric proteinCOGAN, J. D; PHILLIPS, J. A; SCHENKMAN, S. S et al.The Journal of clinical endocrinology and metabolism. 1994, Vol 79, Num 5, pp 1261-1265, issn 0021-972XArticle

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