178 results on '"Sakati N"'
Search Results
2. Smith–Lemli–Opitz syndrome among Arabs
3. Hyperinsulinism and hyperammonaemia
4. Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency
5. Gender reversal in 46XX congenital virilizing adrenal hyperplasia
6. Isovaleric acidemia appearing as diabetic ketoacidosis
7. Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients
8. Organic aciduria in neonatal multiple carboxylase deficiency
9. Cystic fibrosis in Saudi Arabia
10. Endocrine sequelae of childhood craniopharyngioma
11. Smith-Lemli-Opitz syndrome among Arabs
12. MP-16.05
13. MP-19.06
14. Multiple displacement amplification on single cell and possible preimplantation genetic diagnosis applications
15. P0571 INFANITLE SYSTEMIC HYALINOSIS: A FATAL HEREDITARY DISORDER
16. Endocrine Sequelae of Childhood Craniopharyngioma
17. Use of FISH technique in the diagnosis of chromosomal syndromes
18. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement
19. Linkage Mapping of the Kenny-Caffey Syndrome and Evidence for Allelism with the Sanjad-Sakati Syndrome
20. Wolman's Disease: The King Faisal Specialist Hospital and Research Centre Experience
21. Different faces of non‐autoimmune diabetes of infancy
22. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
23. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy
24. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.
25. DETECTION OF HETEROGENEOUS GROWTH HORMONE (GH) GENE SPLICING BY DNA ANALYSIS OF DRIED BLOOD SPOTS FROM GH DEFICIENT SUBJECTS
26. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
27. Saudi Variant of Multiple Sulfatase Deficiency
28. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
29. TWO FORMS OF CUTIS LAXA PRESENTING IN THE NEWBORN PERIOD.
30. Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.
31. Scimitar Syndrome.
32. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.
33. MP-19.06: Familial pheochromocytoma: Comparison with sporadic form
34. MP-16.05: Characteristics of pheochromocytoma in children
35. Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs
36. X-linked adrenoleukodystrophy - The Saudi experience
37. Mutation of a tubulin-specific chaperone, TBCE, causes the HRD/Sanjad-Sakati autosomal recessive Kenny-Caffey syndrome
38. Microsurgery for giant craniopharyngiomas in children
39. Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency
40. Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children: a comparison with multiple daily insulin injections.
41. Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
42. Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy
43. Crossed ectopia of a solitary kidney associated with anal atresia.
44. A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs
45. Persistent hyperinsulinemic hypoglycemia of infancy: Experience with 28 cases
46. 25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.
47. Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
48. First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
49. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
50. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
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