459 results on '"Meiner, Vardiella"'
Search Results
2. Variable clinical expression of a novel FLNC truncating variant in a large family
3. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
4. Exome sequencing for structurally normal fetuses—yields and ethical issues
5. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
6. Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data
7. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
8. Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
9. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
10. Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
11. Multi-system neurological disorder associated with a CRYAB variant
12. VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
13. Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study
14. Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
15. Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
16. Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.
17. Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
18. Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder
19. GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism
20. Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D
21. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD
22. Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
23. RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
24. Intellectual disability syndrome associated with a homozygous founder variant inSGSM3in Ashkenazi Jews
25. A case report of familial Mayer-Rokitansky-Küster-Hauser syndrome as part of the phenotypic spectrum of the 2q37 deletion
26. Molecular genetics of familial hypercholesterolemia in Israel–revisited
27. Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.
28. Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
29. State of the art in prenatal diagnosis
30. Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
31. Disruption of the Acyl-CoA:Cholesterol Acyltransferase Gene in Mice: Evidence Suggesting Multiple Cholesterol Esterification Enzymes in Mammals
32. MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
33. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
34. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
35. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
36. Teaching NeuroImages: Hypertrophic olivary degeneration in a young man withPOLGgene mutation
37. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
38. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
39. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
40. Intellectual disability syndrome associated with a homozygous founder variant in SGSM3in Ashkenazi Jews
41. Talin1 dysfunction is genetically linked to systemic capillary leak syndrome
42. Exome sequencing for structurally normal fetuses—yields and ethical issues
43. Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population
44. On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and Cyp27a1−/− mice
45. Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies
46. Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
47. Frequent misdiagnosis of adult polyglucosan body disease
48. Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation
49. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
50. Biallelic variants inPAX3cause Klein syndrome
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