Found: 29
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An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?
- Published in:
- Clinical Genetics, 1995, v. 48, n. 5, p. 264, doi. 10.1111/j.1399-0004.1995.tb04102.x
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- Publication type:
- Article
Rectal duplications accompanying rectovestibular fistula: Report of two cases.
- Published in:
- Pediatrics International, 2013, v. 55, n. 4, p. e86, doi. 10.1111/ped.12086
- By:
- Publication type:
- Article
A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis.
- Published in:
- Pediatrics International, 2010, v. 52, n. 5, p. 845, doi. 10.1111/j.1442-200X.2010.03181.x
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- Publication type:
- Article
Waardenburg syndrome type I and small patella syndrome in the same patient.
- Published in:
- Pediatrics International, 1999, v. 41, n. 6, p. 704, doi. 10.1046/j.1442-200X.1999.01133.x
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- Publication type:
- Article
Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2232, doi. 10.1002/ajmg.a.63300
- By:
- Publication type:
- Article
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 220, doi. 10.1002/ajmg.a.62986
- By:
- Publication type:
- Article
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1770, doi. 10.1002/ajmg.a.36495
- By:
- Publication type:
- Article
Modeling Human Retinal Development with Patient-Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2.
- Published in:
- Stem Cells, 2014, v. 32, n. 6, p. 1480, doi. 10.1002/stem.1667
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- Publication type:
- Article
Investigation of CYP2D6 Gene Polymorphisms in Turkish Population.
- Published in:
- Psychopharmacology Bulletin, 2016, v. 46, n. 1, p. 67
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- Publication type:
- Article
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 397, doi. 10.1038/78071
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- Publication type:
- 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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- Publication type:
- Article
Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.
- Published in:
- Asian Journal of Andrology, 2009, v. 11, n. 5, p. 617, doi. 10.1038/aja.2009.37
- By:
- Publication type:
- Article
Association of microsomal epoxide hydrolase gene polymorphism and pre-eclampsia in Turkish women.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2007, v. 33, n. 1, p. 32, doi. 10.1111/j.1447-0756.2007.00473.x
- By:
- Publication type:
- Article
No association of polymorphisms in the glutathione S-transferase genes with pre-eclampsia, eclampsia and HELLP syndrome in a Turkish population.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2005, v. 31, n. 3, p. 236, doi. 10.1111/j.1447-0756.2005.00281.x
- By:
- Publication type:
- Article
Anencephalic Infant With Cleft Palate and Natal Teeth: A Case Report.
- Published in:
- Cleft Palate Craniofacial Journal, 2004, v. 41, n. 4, p. 454, doi. 10.1597/03-024.1
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- Publication type:
- Article
When should We do which Test?
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 7
- By:
- Publication type:
- Article
LRP5 Gen Mutasyonuna Bağlı Ortaya Çıkan Osteoporosis Pseudoglioma Sendromu.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 4a, p. P3
- By:
- Publication type:
- Article
Comparison of the Diagnostic Accuracy of Next Generation Sequencing and Microarray Resequencing Methods for Detection of BRCA1 and BRCA2 Gene Mutations.
- Published in:
- Gazi Medical Journal, 2018, v. 29, n. 2, p. 116, doi. 10.12996/gmj.2018.32
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- Publication type:
- Article
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
- Published in:
- Functional & Integrative Genomics, 2022, v. 22, n. 3, p. 291, doi. 10.1007/s10142-021-00819-3
- By:
- Publication type:
- Article
Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 94, doi. 10.24953/turkjped.2018.01.015
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- Publication type:
- Article
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102
- By:
- Publication type:
- Article
EVALUATION OF MITOCHONDRIAL DNA MUTATIONS IN SIX FAMILIES BY RESEQUENCING ARRAY.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2023, v. 86, n. 1, p. 78, doi. 10.26650/IUITFD.1164334
- By:
- Publication type:
- Article
Detection of Marker Chromosome in the Abortion Material; Does It Reflect the Karyotype of the Pregnancy Lost Tissue or the Maternal Decidual Tissue? Case Report.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2011, v. 31, n. 5, p. 1293, doi. 10.5336/medsci.2009-14578
- By:
- Publication type:
- Article
Detection of Marker Chromosome in the Abortion Material; Does It Reflect the Karyotype of the Pregnancy Lost Tissue or the Maternal Decidual Tissue? Case Report.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2011, v. 31, n. 4, p. 1293, doi. 10.5336/medsci.2009-14578
- By:
- Publication type:
- Article
Monosomy 1p36 Syndrome: the first case report from Turkey.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
First-trimester diagnosis of Robinow syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients.
- Published in:
- Rheumatology International, 2011, v. 31, n. 7, p. 859, doi. 10.1007/s00296-010-1380-y
- By:
- Publication type:
- Article