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Showing results for ISSN matching 1471-2350

Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

JOURNAL ARTICLE published December 2010 in BMC Medical Genetics

Authors: Ji Hyeon Park | Jung Hoon Woo | Sung Han Shim | Song-Ju Yang | Young Min Choi | Kap-Seok Yang | Dong Hyun Cha

https://doi.org/10.1186/1471-2350-11-102 Actions

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

JOURNAL ARTICLE published December 2011 in BMC Medical Genetics

Authors: Chiara Conte | Maria Rosaria D'Apice | Fabrizio Rinaldi | Stefano Gambardella | Federica Sangiuolo | Giuseppe Novelli

https://doi.org/10.1186/1471-2350-12-125 Actions

Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case–control study

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Mette Hollensted | Tarunveer S Ahluwalia | Christian Theil Have | Niels Grarup | Cilius Esmann Fonvig | Tenna Ruest Haarmark Nielsen | Cæcilie Trier | Lavinia Paternoster | Oluf Pedersen | Jens-Christian Holm | Thorkild I A Sørensen | Torben Hansen

https://doi.org/10.1186/s12881-015-0253-3 Actions

Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Xin Hou | Jinyuan Mao | Yushu Li | Jia Li | Weiwei Wang | Chenling Fan | Hong Wang | Hongmei Zhang | Zhongyan Shan | Weiping Teng

https://doi.org/10.1186/s12881-015-0222-x Actions

Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

JOURNAL ARTICLE published December 2014 in BMC Medical Genetics

Authors: Yanliang Zhang | Yanhui Liu | Ya Li | Yong Duan | Keyun Zhang | Junwang Wang | Yong Dai

https://doi.org/10.1186/s12881-014-0105-6 Actions

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas

JOURNAL ARTICLE published October 2020 in BMC Medical Genetics

Authors: Xianping Meng | Hongyan Lu | Xia Jiang | Bin Huang | Song Wu | Guiping Yu | Hongbao Cao

https://doi.org/10.1186/s12881-020-01099-7 Actions

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

JOURNAL ARTICLE published December 2009 in BMC Medical Genetics

Authors: Rocío Núñez-Torres | Raquel M Fernández | Manuel López-Alonso | Guillermo Antiñolo | Salud Borrego

https://doi.org/10.1186/1471-2350-10-119 Actions

Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Immaculate Mbongo Langmia | Yamunah Devi Apalasamy | Siti Zawaih Omar | Zahurin Mohamed

https://doi.org/10.1186/s12881-015-0202-1 Actions

Evaluating the association of common PBX1variants with type 2 diabetes

JOURNAL ARTICLE published December 2008 in BMC Medical Genetics

Authors: Konsta Duesing | Guillaume Charpentier | Michel Marre | Jean Tichet | Serge Hercberg | Beverley Balkau | Philippe Froguel | Fernando Gibson

https://doi.org/10.1186/1471-2350-9-14 Actions

A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians

JOURNAL ARTICLE published December 2004 in BMC Medical Genetics

Authors: Sabrina Garasto | Maurizio Berardelli | Francesco DeRango | Vincenzo Mari | Emidio Feraco | Giovanna De Benedictis

https://doi.org/10.1186/1471-2350-5-3 Actions

RNASET2 tag SNP but not CCR6 polymorphisms is associated with autoimmune thyroid diseases in the Chinese Han population

JOURNAL ARTICLE published December 2015 in BMC Medical Genetics

Authors: Xiao-jun Chen | Xiao-hua Gong | Ni Yan | Shuai Meng | Qiu Qin | Yan-Fei Jiang | Hai-Yan Zheng | Jin-an Zhang

https://doi.org/10.1186/s12881-015-0150-9 Actions

Using literature-based discovery to identify candidate genes for the interaction between myocardial infarction and depression

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Research funded by National Natural Science Foundation of China (81671746,8140145) | Key Laboratory of Myocardial Ischemia, Harbin Medical University, Chinese Ministry of Education (KF201604,KF201519) | National Natural Science Foundation of China (81330033) | National Key R&D Program of China (2016YFC1301100) | Special Financial Grant from China Postdoctoral Science Foundation (2016T90313)

Authors: Zhenguo Dai | Qian Li | Guang Yang | Yini Wang | Yang Liu | Zhilei Zheng | Yingfeng Tu | Shuang Yang | Bo Yu

https://doi.org/10.1186/s12881-019-0841-8 Actions

Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension

JOURNAL ARTICLE published December 2019 in BMC Medical Genetics

Authors: Ossama K. Abou Hassan | Wiam Haidar | Mariam Arabi | Hadi Skouri | Fadi Bitar | Georges Nemer | Imad Bou Akl

https://doi.org/10.1186/s12881-019-0915-7 Actions

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

JOURNAL ARTICLE published December 2017 in BMC Medical Genetics

Research funded by Medical Research Council (MR/M018431/1) | National Institute for Health Research (NIHR-CS-012-009,NF-SI-0513-10076)

Authors: N. C. Ramchander | N. A. J. Ryan | E. J. Crosbie | D. G. Evans

https://doi.org/10.1186/s12881-017-0391-x Actions

Haploinsufficiency for BRCA1is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes

JOURNAL ARTICLE published December 2005 in BMC Medical Genetics

Authors: Jean J Latimer | Wendy S Rubinstein | Jennifer M Johnson | Amal Kanbour-Shakir | Victor G Vogel | Stephen G Grant

https://doi.org/10.1186/1471-2350-6-26 Actions

Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)

JOURNAL ARTICLE published December 2013 in BMC Medical Genetics

Authors: Irving Hsu | Rong Chen | Aditya Ramesh | Erik Corona | Hyunseok Peter Kang | David Ruau | Atul J Butte

https://doi.org/10.1186/1471-2350-14-62 Actions

Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population

JOURNAL ARTICLE published December 2020 in BMC Medical Genetics

Authors: S. Razak | N. Bibi | J. A. Dar | T. Afsar | A. Almajwal | Z. Parveen | S. Jahan

https://doi.org/10.1186/s12881-020-0979-4 Actions

Association study between a polymorphic poly-T repeat sequence in the promoter of the somatostatin gene and metabolic syndrome

JOURNAL ARTICLE published December 2018 in BMC Medical Genetics

Research funded by Canadian Institutes of Health Research (CTP‑82941)

Authors: Monique Tremblay | Diane Brisson | Daniel Gaudet

https://doi.org/10.1186/s12881-018-0641-6 Actions

Annual acknowledgement of reviewers

JOURNAL ARTICLE published December 2016 in BMC Medical Genetics

Authors: Timothy R. Sands

https://doi.org/10.1186/s12881-016-0277-3 Actions

Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3gene in extremely obese children and adolescents

JOURNAL ARTICLE published December 2007 in BMC Medical Genetics

Authors: Katja Hölter | Anne-Kathrin Wermter | André Scherag | Wolfgang Siegfried | Hanspeter Goldschmidt | Johannes Hebebrand | Anke Hinney

https://doi.org/10.1186/1471-2350-8-21 Actions
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