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Showing results for ISSN matching 0022-2593

Editorial: JMG in 2021

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Huw Dorkins

https://doi.org/10.1136/jmedgenet-2020-107679 Actions

MG-142 Improved motor function with 5-hydroxytryptophan in a family with systemic serotonin deficiency, hemiplegic migraines and neurodegenerative course

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: GA Horvath | R Ye | S Stockler-Ipsiroglu | PJ Waters | RD Blakely | M Coulter-Mackie

https://doi.org/10.1136/jmedgenet-2015-103577.31 Actions

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

JOURNAL ARTICLE published 1 September 2011 in Journal of Medical Genetics

Authors: C. Beneteau | E. Landais | M. Doco-Fenzy | C. Gavazzi | C. Philippe | M. Beri-Dexheimer | C. Bonnet | J. Vigneron | P. Walrafen | J. Motte | B. Leheup | P. Jonveaux

https://doi.org/10.1136/jmedgenet-2011-100008 Actions

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer

JOURNAL ARTICLE published 1 October 2010 in Journal of Medical Genetics

Authors: D. W. Neklason | T. M. Tuohy | J. Stevens | B. Otterud | L. Baird | R. A. Kerber | W. S. Samowitz | S. K. Kuwada | M. F. Leppert | R. W. Burt

https://doi.org/10.1136/jmg.2009.076091 Actions

MG-129 Our experience ofin silicogene panel testing for clinically heterogeneous disorders using exome sequencing

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Raveen K Basran | Christian R Marshall | Adam Shlien | Marianne Eliou | Jennifer Orr | Lynette Lau | Dimitri J Stavropoulos | Peter N Ray

https://doi.org/10.1136/jmedgenet-2015-103578.28 Actions

Next generation diagnostics of cystic fibrosis andCFTR-related disorders by targeted multiplex high-coverage resequencing ofCFTR

JOURNAL ARTICLE published July 2013 in Journal of Medical Genetics

Authors: D Trujillano | M D Ramos | J González | C Tornador | F Sotillo | G Escaramis | S Ossowski | L Armengol | T Casals | X Estivill

https://doi.org/10.1136/jmedgenet-2013-101602 Actions

Somatic mosaicism containing double mutations inPTCH1revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome

JOURNAL ARTICLE published August 2017 in Journal of Medical Genetics

Authors: Yu Ikemoto | Yoshinaga Takayama | Katsunori Fujii | Mokuri Masuda | Chise Kato | Hiromi Hatsuse | Kazuko Fujitani | Kazuaki Nagao | Kohzoh Kameyama | Hajime Ikehara | Masashi Toyoda | Akihiro Umezawa | Toshiyuki Miyashita

https://doi.org/10.1136/jmedgenet-2016-104490 Actions

Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers

JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics

Research funded by Research Trainees Coordinating Centre (NIHR-CS-012-009) | National Institute for Health Research (IS-BRC-1215-20007,NF-SI-0513-10076) | Medical Research Council (MR/M018431/1)

Authors: D Gareth Evans | Fiona Lalloo | Neil AJ Ryan | Naomi Bowers | Kate Green | Emma R Woodward | Tara Clancy | James Bolton | Rhona J McVey | Andrew J Wallace | Katy Newton | James Hill | Raymond McMahon | Emma J Crosbie

https://doi.org/10.1136/jmedgenet-2020-107542 Actions

Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations

JOURNAL ARTICLE published May 2023 in Journal of Medical Genetics

Research funded by Groupement des Entreprises Françaises dans la Lutte contre le Cancer (R18064EE)

Authors: Laëtitia Meulemans | Stéphanie Baert Desurmont | Marie-Christine Waill | Gaia Castelain | Audrey Killian | Julie Hauchard | Thierry Frebourg | Florence Coulet | Alexandra Martins | Martine Muleris | Pascaline Gaildrat

https://doi.org/10.1136/jmg-2022-108576 Actions

Correction

JOURNAL ARTICLE published 1 August 2011 in Journal of Medical Genetics

https://doi.org/10.1136/jmg.2010.085068corr1 Actions

MG-144 When rare happens: Characterising atypical breakpoints in CML

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Sean Young | Darko Curman | Aly Karsan | Elaine Law | Mohamed Elemary | Haji Chalchal | Mirjana Zarkovic

https://doi.org/10.1136/jmedgenet-2015-103577.33 Actions

Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis

JOURNAL ARTICLE published August 2013 in Journal of Medical Genetics

Authors: Yuan Yuan | Ling Yang | Meng Shi | Dongsheng Lu | Haiyi Lou | Yi-Ping Phoebe Chen | Li Jin | Shuhua Xu

https://doi.org/10.1136/jmedgenet-2012-101501 Actions

Phenotype-genotype correlation in a familial IGF1R microdeletion case

JOURNAL ARTICLE published 1 July 2010 in Journal of Medical Genetics

Authors: D. C. M. Veenma | H. J. Eussen | L. C. P. Govaerts | S. W. K. de Kort | R. J. Odink | C. H. Wouters | A. C. S. Hokken-Koelega | A. de Klein

https://doi.org/10.1136/jmg.2009.070730 Actions

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

JOURNAL ARTICLE published 1 July 2009 in Journal of Medical Genetics

Authors: P Laissue | B Lakhal | B A Benayoun | A Dipietromaria | R Braham | H Elghezal | P Philibert | A Saad | C Sultan | M Fellous | R A Veitia

https://doi.org/10.1136/jmg.2008.065086 Actions

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

JOURNAL ARTICLE published January 2012 in Journal of Medical Genetics

Authors: Hanan E Shamseldin | Maha A Faden | Walid Alashram | Fowzan S Alkuraya

https://doi.org/10.1136/jmedgenet-2011-100556 Actions

Correction: SETD1B-associated neurodevelopmental disorder

JOURNAL ARTICLE published 17 August 2022 in Journal of Medical Genetics

https://doi.org/10.1136/jmedgenet-2019-106756corr1 Actions

MG-125 CYP21A2 mutation spectrum in congenital adrenal hyperplasia identified from molecular genetic testing

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Yanwei Xi | Jillian Parboosingh | Heather Johnson | Lisa Graham | Ryan Lamont

https://doi.org/10.1136/jmedgenet-2015-103578.25 Actions

MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Catalina Maftei | Anne-Marie Laberge | Bruno Maranda | Grant Mitchell | Sonia Nizard | Frédérique Tihy | Emmanuelle Lemyre

https://doi.org/10.1136/jmedgenet-2015-103577.13 Actions

Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus

JOURNAL ARTICLE published 31 January 2024 in Journal of Medical Genetics

Research funded by Health Commission of Shanxi Province (2021014)

Authors: Liheng Chen | Shuoyang Zhao | Wenxia Song | Lihong Wang | Zerong Yao | Jianfei Gao | Xiaoze Li

https://doi.org/10.1136/jmg-2023-109656 Actions

Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis

JOURNAL ARTICLE published 1 February 2024 in Journal of Medical Genetics

Research funded by USAMRAA CDMRP Neurofibromatosis Research Program (W81XWH1910334) | Manchester National Institute for Health Research (NIHR) Biomedical Research Centre (IS- BRC-1215-20007)

Authors: Cristina Perez-Becerril | George J Burghel | Claire Hartley | Charles F Rowlands | D Gareth Evans | Miriam J Smith

https://doi.org/10.1136/jmg-2023-109586 Actions
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