NO |
NAME |
YEAR |
1 | Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients... | 2024 |
2 | Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Varian... | 2023 |
3 | TEKRARLAYAN GEBELİK KAYIPLARI BULUNAN OLGUDA SAPTANAN 48, XY,+7,+21 VE 47,XX,+16 FETAL KARYOTİPLER... | 2023 |
4 | Prenatal diagnosis of cystic hygroma cases in tertiary centre and retrospective analysis of pregnanc... | 2022 |
5 | Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the Na... | 2022 |
6 | Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ve... | 2022 |
7 | Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation seq... | 2022 |
8 | Effects of APOE, ACE, PICALM, and CYP2D6 Gene Variants on Alzheimer's Disease... | 2021 |
9 | Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atro... | 2021 |
10 | How Much do we Know About the Findings of 22q11.2 Deletion Syndrome: A Single-Centre Study with 11-Y... | 2020 |
11 | Prematür Ovaryen Yetmezlikli Hastalarda Karyotip Değerlendirmesi... | 2020 |
12 | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovari... | 2020 |
13 | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovari... | 2020 |
14 | Unexpected Coexistence of a Derivative t(21,21) and Complementary mosaic r(21) in a Female with Mult... | 2019 |
15 | Phenotypic spectrum of CHARGE syndrome based on clinical characteristics... | 2018 |
16 | Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum... | 2018 |
17 | A newborn with monosomy X in association with corpus callosum agenesis... | 2017 |
18 | Localization of the Werner Protein Together with H2AX in ?-Irradiation-Induced Neoplastic Transforme... | 2017 |
19 | Analysis of first-trimester combined test results in preparation for a cell-free fetal DNA era... | 2016 |
20 | Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree ... | 2016 |
21 | Anormal Sperm Motilitesine Bağlı Erkek İnfertilitesinde Mitokondriyal A3243G Mutasyonunun Rolü... | 2015 |
22 | Termination of pregnancy for fetal abnormalities: Main arguments and a desicion-tree model... | 2015 |
23 | A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi S... | 2015 |
24 | Glutathione S-Transferase Gene Polymorphisms in Children with Down Syndrome and Their Mothers... | 2015 |
25 | Risk factors for subclinical inflammation in children with Familial Mediterranean fever... | 2015 |
26 | Clinical Significance of R202Q alteration of MEFV gene in children with Familial Mediterranean fFeve... | 2015 |
27 | Sequencing of the CFTR gene in selected turkish patients with cystic fibrosis.... | 2014 |
28 | Assessment of sleep problems in children with familial Mediterranean fever.... | 2014 |
29 | Maternal Dengeli Translokasyon Taşıyıcılığına Bağlı Gelişen Fetal Dengesiz 47,XY,t(2;18)(p... | 2014 |
30 | 46,xx erkek sendromlu bir olgu... | 2013 |
31 | Mutations in WNT1 cause different forms of bone fragility.... | 2013 |
32 | Kordomalarda Sitogenetik Ve Moleküler Genetik... | 2013 |
33 | Periferik Nöropatiler... | 2013 |
34 | UroVysion fluorescence in situ hybridization (UroVysion FISH) assay for detection of bladder cancer ... | 2013 |
35 | ADAM33 Gene Polymorphisms Are Not Associated With Asthma in Turkish Children... | 2012 |
36 | Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene... | 2012 |
37 | Obez ve dislipidemik Türk çocuklarında apolipoprotein E gen polimorfizmi ve plazma lipid seviyele... | 2012 |
38 | New mutations in the ATM gene and clinical data of 25 AT patients.... | 2011 |
39 | Canlılığını yitirmiş embriyolarda gözlenen anöploidi sıklığının sperm-FISH ve sperm apo... | 2011 |
40 | Interview with parents of children with Down syndrome: their perceptions and feelings.... | 2011 |
41 | Comparison of Aneuploidy Frequency to Sperm FISH and Sperm Apoptosis Results in Embryos That Lost th... | 2011 |
42 | Sotos sendromu; Boy uzunluğunun nadir bir sebebi... | 2011 |
43 | Spinal Musküler Atrofi için Prenatal Tanı... | 2010 |
44 | Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane r... | 2010 |
45 | A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a l... | 2009 |
46 | Tuberoz Skleroz Hastalığının Moleküler Genetiği... | 2009 |
47 | von Hippel-Lindau Hastalığının Moleküler Genetiği... | 2009 |
48 | A new case of Martsolf syndrome.... | 2007 |
49 | [ İngilizce Özet ] [ PDF ] [ Benzer Makaleler ] İNTERFAZ HÜCRELERİNDE FLÜORESAN IN-SITU HİB... | 2006 |
50 | PRENATAL TANIDA SAPTANAN SATELLİTLİ Y KROMOZOMUNUN (Yqs) DEĞERLENDİRİLMESİ... | 2004 |
51 | Trends in cytogenetic prenatal diagnosis in a reference hospital in Izmir/Turkey: a comparative stud... | 2004 |
52 | Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease.... | 2004 |
53 | Celiac disease in children with Down syndrome: importance of follow-up and serologic screening. ... | 2003 |
54 | Trigonocephaly and Wilson's disease in two siblings. ... | 2003 |
55 | Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene... | 2003 |
56 | Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literat... | 2003 |
57 | New chromosome rearrangement in acute lymphoblastic leukemia. ... | 2002 |
58 | SPİNAL MUSKÜLER ATROFİ'DE MOLEKÜLER TANI: EGE BÖLGERİNDE BİR REFERANS MERKEZİNDEKİ UYGULAMA... | 2002 |
59 | Down Sendromlu Olgularda Anti-gliadin ve Anti-endomisyum Antikorları: Bir Ön Çalışma ... | 2001 |
60 | A Father Born To Consanguineous Parents Had Double Translocation 21;22 (44,XY, t(21q;22q),t(21q;22q... | 2001 |
61 | Cerebro-costo-mandibular syndrome: a case report.... | 2001 |
62 | NEU-LAXOVA SENDROMU : OLGU SUNUMU... | 2001 |
63 | WOLF-HIRSCHORN SENDROMU: OLGU SUNUMU... | 2001 |
64 | Ultrasonda Choroid Plexus Kisti Saptanan Gebelerin sitogenetik Analiz Değerlendirilmesi... | 1999 |