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1-38 out of 38 article(s)
Title Author Type Date Words
THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE/TRAKYA BOLGESI ERKEK INFERTILITE OLGULARINDA Y KROMOZOM MIKRODELESYONLARI VE SITOGENETIK ANOMALILERIN SIKLIGI: TEK MERKEZ DENEYIMI. Yalcintepe, Sinem; Eker, Damla; Gurkan, Hakan Mar 1, 2021 3403
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Larson, Daniel P.; Akkari, Yassmine M.; Van Dyke, Daniel L.; Raca, Gordana; Gardner, Juli-Anne; Rehd Feb 1, 2021 7854
Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART). Poornima, Subhadra; Daram, Swarnalatha; Devaki, Rama Krishna; Qurratulain, Hasan Oct 1, 2020 3359
Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review. Zhang, Han; Xi, Qi; Liu, Xiangyin; Yue, Fagui; Zhang, Hongguo; Sun, Meiling; Liu, Ruizhi Jun 30, 2020 5049
DEFINING HEALTH-RELATED QUALITY OF LIFE IN LOCALIZED AND ADVANCED STAGES OF BREAST CANCER--THE FIRST STEP TOWARDS HEREDITARY CANCER GENETIC COUNSELING/DEFINIRANJE KVALITETE AIVOTA KOD BOLESNICA S LOKALIZIRANIM I UZNAPREDOVALIM STADIJEM RAKA DOJKE--PRVI KORAK PREMA ONKOLOSKOM GENETSKOM SAVJETOVANJU. Zigman, Tamara; Luksa, Ivana; Mihaljevic, Gloria; Zarkovic, Masa; Kirac, Iva; Vrdoljak, Danko Velimi Report Jun 1, 2020 4233
A Leaky Noisy-OR Bayesian Network Applied to Genetic Counseling in Dogs. Detilleux, Johann. C. Jun 1, 2020 5304
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/[beta]-Catenin Signaling Pathway. Han, Shuai; Sun, Junhui; Yang, Liwei; Qi, Ming May 31, 2020 5109
Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis. Pogoda, Katarzyna; Niwinska, Anna; Sarnowska, ElZbieta; Nowakowska, Dorota; Jagiello-Gruszfeld, Agni Mar 1, 2020 5613
Robertsonian and Balanced Reciprocal Translocation in Both Child and Mother with a History of Recurrent Abortions. Poornima, Subhadra; Daram, Swarnalatha; Krishna, Rama; Hasan, Qurratulain Jan 1, 2020 1345
Genetic Evaluation of Turkish patients with Colorectal Carcinoma in Terms of Lynch Syndrome by Targeted Next Generation Sequencing. Ozdemir, Taha Resid; Degirmenci, Mustafa Jan 1, 2020 3698
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; Dec 1, 2019 5750
Importance of functional genomics in medical genetics. Gulec, Cagri Jun 1, 2019 264
A case with mutation in the TNFRSF1A gene. Yucel, Hilal; Koc, Altug Jun 1, 2019 293
Molecular analysis of SMN1 and SMN2 genes with the patients pre-diagnosed with spinal muscular atrophy. Karasu, Nilgun; Dogan, Muhammet Ensar; Yildirim, Abdulbaki; Taskin, Duygu; Ozkul, Yusuf; Saatci, Cet Jun 1, 2019 292
Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection. Bragina, Elena Yu.; Babushkina, Nadezhda P.; Garaeva, Anna F.; Rudko, Alexey A.; Tsitrikov, Dmitry Y Report May 1, 2019 4966
KIF21A Gene c.2860C>T Mutation in CFEOMlA: The First Report from Iran. Ramahi, Masoomeh; Rad, Abolfazl; Shirzadeh, Ebrahim; Najafi, Maryam Case study Oct 1, 2018 2003
TGFB1 and LAMA1 gene polymorphisms in children with high myopia. Report Apr 30, 2018 2661
Prevalence of Synchronous Oligopolyposis in Incident Colorectal Cancer: A Population-Based Study. Marques-Lespier, Juan M.; Soto-Salgado, Marievelisse; Gonzalez-Pons, Maria; Mendez, Vanessa; Bertran Mar 1, 2018 4567
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. Karimi, Nasibeh; Alibakhshi, Reza; Almasi, Shekoufeh Report Jan 1, 2018 4337
Is Genetic Counseling a Form of Eugenics?/Asesoramiento genetico: ?una practica que estimula la eugenesia?/Assessoria genetica: uma pratica que estimula a eugenia? Bernal, Ricardo Miguel Luque; Bejarano, Roberto Jose Buitrago Jan 1, 2018 7302
FOURTEEN YEARS OF NEWBORN SCREENING FOR PHENYLKETONURIA IN VOJVODINA/CETRNAEST GODINA NOVORODENACKOG SKRININGA FENILKETONURIJE U VOJVODINI. Kavecan, Ivana; Jovanovic, Jadranka; Privrodski, Boris; Obrenovic, Milan; Mudrinic, Tatjana Redzek Report Nov 1, 2017 3149
Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations. Onay, Huseyin; Isik, Esra; Ozen, Samim; Kavasoglu, Ayse Nur; Simsir, Ilgin Yildirim; Atik, Tahir; Yu Author abstract Jun 1, 2017 249
Novel Implications in Molecular Diagnosis of Lynch Syndrome. Liccardo, Raffaella; Rosa, Marina De; Izzo, Paola; Duraturo, Francesca Report Jan 1, 2017 9099
Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child. Pirastru, Monica; Manca, Laura; Trova, Sandro; Mereu, Paolo Clinical report Jan 1, 2017 3765
Construction of Multilevel Structure for Avian Influenza Virus System Based on Granular Computing. Li, Yang; Liang, Qi-Hao; Sun, Meng-Meng; Tang, Xu-Qing; Zhu, Ping Report Jan 1, 2017 4610
Genetics and genomics of pathogens: fighting infections with genome-sequencing technology. Plavskin, Alexandra Mar 1, 2016 3359
Currently Clinical Views on Genetics of Wilson's Disease. Chen, Chen; Shen, Bo; Xiao, Jia-Jia; Wu, Rong; Canning, Sarah Duff; Wang, Xiao-Ping Clinical report Jul 5, 2015 3988
Mutation analysis of exons 10 and 17a of CFTR gene in patients with cystic fibrosis in Kermanshah province, western Iran. Sahami, Abbas; Alibakhshi, Reza; Ghadiri, Keyghobad; Sadeghi, Hamid Report Jan 1, 2014 3825
Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. Krause, A.; Wainstein, T.; Essop, F.B.; Goodyear, Q. Report Dec 1, 2013 5188
Effectiveness of prenatal screening for Down syndrome on the basis of maternal age in Cape Town. Urban, M.F.; Stewart, C.; Ruppelt, T.; Geerts, L. Report Jan 1, 2011 3216
Medical genetics in India--what needs to be done? Agarwal, S.S. Editorial Oct 1, 2009 1580
Age at diagnosis of autism spectrum disorders in four regions of Canada. Ouellette-Kuntz, Helene M.J.; Coo, Helen; Lam, Miu; Yu, C.T.; Breitenbach, Marlene M.; Hennessey, Pa Report Jul 1, 2009 4286
Increased C3-carnitine in a healthy premature infant. Chapman, Kimberly A.; Bennett, Michael J.; Sondheimer, Neal Nov 1, 2008 3286
Cirrhosis originally diagnosed as nonalcoholic steatohepatitis. Snyder, Marion L.; Fantz, Corinne R. Aug 1, 2008 3521
The laboratory's role in pharmacogenetic testing. Oleschuck, Curtis May 1, 2008 1289
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes. Fuller, Maria; Sharp, Peter C.; Rozaklis, Tina; Whitfield, Phillip D.; Blacklock, David; Hopwood, Jo Apr 1, 2005 4684
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Li, Ying; Zimmermann, Bernhard; Rusterholz, Corinne; Kang, Anjeung; Holzgreve, Wolfgang; Hahn, Sinuh Jun 1, 2004 6041
Genetic testing: What's here, what's ahead. Lippman, Helen Brief Article Aug 1, 2000 669

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