Found: 21
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BDNF Gene Val66met Polymorphism Associated Grey Matter Changes in Human Brain.
- Published in:
- Klinik Psikofarmakoloji Bulteni, 2005, v. 15, n. 3, p. 104
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- Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 291, doi. 10.1002/ajmg.a.36248
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- Article
Three patients resembling Teebi-Shaltout syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2570, doi. 10.1002/ajmg.a.36082
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- Article
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113
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- Article
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 791, doi. 10.1038/sj.ejhg.5201614
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- Article
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
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- Article
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 4, p. 475, doi. 10.24953/turkjped.2017.04.017
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- Article
Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 617
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- Publication type:
- Article
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1580, doi. 10.1007/s10875-022-01280-y
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- Article
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
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- Journal of Clinical Immunology, 2021, v. 41, n. 7, p. 1633, doi. 10.1007/s10875-021-01098-0
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- Publication type:
- Article
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2267, doi. 10.1093/hmg/ddu744
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- Article
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
- Published in:
- Molecular Cytogenetics (17558166), 2010, v. 3, p. 10, doi. 10.1186/1755-8166-3-10
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- Article
A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum.
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- Acta Ophthalmologica (1755375X), 2009, v. 87, n. 1, p. 52, doi. 10.1111/j.1600-0420.2007.01082.x
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- Article
Environmental effect and genetic influence: a regional cancer predisposition survey in the Zonguldak region of Northwest Turkey.
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- Environmental Geology, 2007, v. 54, n. 2, p. 391, doi. 10.1007/s00254-007-0826-3
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- Article
A specific mutation in the distant sonic hedgehog ( SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 81, doi. 10.1002/humu.21142
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- Article
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
- Published in:
- Calcified Tissue International, 2021, v. 109, n. 6, p. 633, doi. 10.1007/s00223-021-00879-4
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- Article
ALX4 dysfunction disrupts craniofacial and epidermal development.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 22, p. 4357, doi. 10.1093/hmg/ddp391
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- Publication type:
- Article
Smaller Hippocampus Volume Is Associated with Short Variant of 5-HTTLPR Polymorphism in Medication-Free Major Depressive Disorder Patients.
- Published in:
- Neuropsychobiology, 2010, v. 63, n. 1, p. 22, doi. 10.1159/000321834
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- Article
Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21.
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- Human Molecular Genetics, 1997, v. 6, n. 4, p. 641, doi. 10.1093/hmg/6.4.641
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- Article
A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 8, p. 1199, doi. 10.1093/hmg/5.8.1199
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- Article
Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 945, doi. 10.1093/hmg/5.7.945
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- Article