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44 results on '"Abdul-Rahman OA"'

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1. 22q11.2 Deletion Syndrome in Diverse Populations

2. Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

3. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

4. Fetal alcohol spectrum disorders: current state of diagnosis and treatment.

5. Rubinstein-Taybi syndrome in diverse populations.

6. Ocular measurements in fetal alcohol spectrum disorders.

7. Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

8. Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders.

9. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

10. Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.

11. Noonan syndrome in diverse populations.

12. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

13. 22q11.2 deletion syndrome in diverse populations.

14. Down syndrome in diverse populations.

15. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

16. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

17. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

18. Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health.

19. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

20. Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

21. A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis.

22. Neuromotor synapses in Escobar syndrome.

23. FOXP1 mutations cause intellectual disability and a recognizable phenotype.

24. Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

25. Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.

26. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

27. An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome.

28. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

29. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

30. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

31. Large contiguous gene deletions in Sjögren-Larsson syndrome.

32. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

33. 5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

34. Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.

35. Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

36. X-linked creatine transporter deficiency presenting as a mitochondrial disorder.

37. Nicolaides-Baraitser syndrome: Delineation of the phenotype.

38. Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

39. Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.

40. Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.

41. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

42. Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

43. The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders.

44. Cryptococcal sepsis diagnosed by bone marrow examination.

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