29 results on '"Meiner, Vardiella"'
Search Results
2. Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder
3. Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population
4. Biallelic variants inPAX3cause Klein syndrome
5. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
6. Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy
7. Bi‐allelicPAGR1variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
8. Clinicians’ attitudes towards parental choice in the era of advanced genomic tests in pregnancy
9. The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing
10. Biallelic deletion in a minimalCAPN15intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
11. Grandparental genotyping enhances exome variant interpretation
12. Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy
13. MYORG is associated with recessive primary familial brain calcification
14. Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies
15. Homozygous null variant in CRADD , encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
16. Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome
17. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
18. Genetic screening for Krabbe disease: Learning from the past and looking to the future
19. Leptin, Insulin, and Obesity-related Phenotypes: Genetic Influences on Levels and Longitudinal Changes
20. The clinical spectrum of fetal Niemann–Pick type C
21. Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination
22. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen-branching enzyme gene
23. Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2
24. Molecular diagnosis of Prader‐Willi syndrome: Parent‐of‐origin dependent methylation sites and non‐isotopic detection of (CA)n dinucleotide repeat polymorphisms
25. Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
26. Women's attitudes towards disclosure of genetic information in pregnancy with varying levels of penetrance.
27. The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
28. Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy.
29. Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
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