33 results on '"Akdemir, Zeynep C."'
Search Results
2. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
3. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
4. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
5. A novel homozygousSLC13A5whole‐gene deletion generated byAlu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
6. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
7. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
8. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)
9. Front Cover, Volume 41, Issue 1
10. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
11. A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
12. TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
13. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
14. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
15. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
16. TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease.
17. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
18. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
19. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
20. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
21. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
22. Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
23. Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
24. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
25. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
26. A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
27. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia
28. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
29. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
30. Front Cover, Volume 41, Issue 1.
31. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
32. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
33. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
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