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1. Mutation spectrum of congenital heart disease in a consanguineous Turkish population

2. Both proliferation and lipogenesis of brown adipocytes contribute to postnatal brown adipose tissue growth in mice

3. Neurogenetic analysis of childhood disintegrative disorder

4. De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

5. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

6. Engineering spatial-organized cardiac organoids for developmental toxicity testing

8. Contributors

9. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

10. YAP/TEAD1 Complex Is a Default Repressor of Cardiac Toll-Like Receptor Genes

11. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant

12. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

13. Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

14. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

15. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

16. Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

17. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

18. Identification of Peptidyl-Prolyl Cis-Trans Isomerase-Like 4 as a Disease Causing Gene in Intracranial Aneurysms and its Role in Vertebrate CNS Specific Angiogenesis

19. Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

20. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

21. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

22. L-Histidine Decarboxylase and Tourette's Syndrome

24. Integrated genomic characterization of IDH1-mutant glioma malignant progression

25. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly

26. Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)

27. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

28. De novo mutations revealed by whole exome sequencing are strongly associated with autism

29. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

30. A balanced t(10;15) translocation in a male patient with developmental language disorder

31. Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism

32. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

33. High levels of histamine decarboxylase in the striatum of mice and rats

34. Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice

35. A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group

36. Sequence variants in SLITRK1 are associated with Tourette's syndrome

37. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

38. Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism

40. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

41. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

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