67 results on '"Shohat, Mordechai"'
Search Results
2. A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum
3. Whole exome germline sequencing in early‐onset prostate cancer patients: Genomic findings and clinical outcomes
4. Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
5. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
6. Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
7. The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?
8. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
9. Grandparental genotyping enhances exome variant interpretation
10. BRPF1 ‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
11. Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome
12. Referral patterns for microarray testing in prenatal diagnosis
13. Familial hydrocephalus with normal cognition and distinctive radiological features
14. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
15. Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome
16. Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme prematurity
17. Typing classical polymorphisms by real‐time PCR: Analysis of the GPT and ALAD protein polymorphisms in the Jewish populations
18. Mutatednup62causes autosomal recessive infantile bilateral striatal necrosis
19. Amniotic trisomy 11 mosaicism—is it a benign finding?
20. Myotonic dystrophy—no evidence for preferential transmission of the mutated allele: A prenatal analysis
21. Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome
22. Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population
23. New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death
24. Brachyolmia and spinal stenosis
25. Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?
26. Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis
27. Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female
28. Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter
29. Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings
30. Increased transmission of intermediate alleles of theFMR1 gene compared with normal alleles among female heterozygotes
31. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
32. Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
33. Correlation of linkage data with phenotype in eight families with Stickler syndrome
34. Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation
35. Syndrome of alopecia totalis and 17b-hydroxysteroid dehydrogenase deficiency
36. Further delineation of cerebro-osteo-nephrosis syndrome
37. Congenital deficiency of AFP and Down syndrome screening
38. Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene
39. Agenesis of the corpus callosum in a mother and son
40. Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel
41. Arthrogryposis multiplex congenita in an Arab kindred: Update
42. Possible protection against asthma in heterozygotes for familial Mediterranean fever
43. Desbuquois syndrome: Clinical, radiographic, and morphologic characterization
44. Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13
45. New epiphyseal stippling syndrome with osteoclastic hyperplasia
46. Hearing loss and temporal bone structure in achondroplasia
47. Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies
48. A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: Evidence from pedigree segregation analysis
49. Biochemical characterization of a pedigree with mitochondrially inherited deafness
50. Familial mediterranean fever: Analysis of inheritance and current linkage data
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