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JOURNAL ARTICLE published 15 November 2012 in Human Molecular Genetics

https://doi.org/10.1093/hmg/dds452 Actions

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JOURNAL ARTICLE published 1 January 2012 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddr566 Actions

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JOURNAL ARTICLE published 15 September 2010 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddq319 Actions

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JOURNAL ARTICLE published 19 August 2008 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddn346 Actions

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JOURNAL ARTICLE published 1 September 2011 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddr318 Actions

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells

JOURNAL ARTICLE published 3 October 2007 in Human Molecular Genetics

Authors: S. Kandert | Y. Luke | T. Kleinhenz | S. Neumann | W. Lu | V. M. Jaeger | M. Munck | M. Wehnert | C. R. Muller | Z. Zhou | A. A. Noegel | M.-C. Dabauvalle | I. Karakesisoglou

https://doi.org/10.1093/hmg/ddm338 Actions

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JOURNAL ARTICLE published 1 May 2010 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddq117 Actions

A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

JOURNAL ARTICLE published 1993 in Human Molecular Genetics

Authors: Jeremy P. Cheadle | Layla N. Al-Jader | Allson L. Meredith

https://doi.org/10.1093/hmg/2.7.1067 Actions

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JOURNAL ARTICLE published 1 November 2012 in Human Molecular Genetics

https://doi.org/10.1093/hmg/dds445 Actions

Dinucleotide repeat polymorphism at the PI locus

JOURNAL ARTICLE published 1993 in Human Molecular Genetics

Authors: J. Worthington | C. Pearson | C. Julier | J. Bell | F.B. Comelis

https://doi.org/10.1093/hmg/2.12.2203-a Actions

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JOURNAL ARTICLE published 1 September 2015 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddv326 Actions

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JOURNAL ARTICLE published 15 May 2013 in Human Molecular Genetics

https://doi.org/10.1093/hmg/ddt194 Actions

A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity

JOURNAL ARTICLE published 1 May 2015 in Human Molecular Genetics

Authors: D. Chen | V. Gaborieau | Y. Zhao | A. Chabrier | H. Wang | T. Waterboer | D. Zaridze | J. Lissowska | P. Rudnai | E. Fabianova | V. Bencko | V. Janout | L. Foretova | I. N. Mates | N. Szeszenia-Dabrowska | P. Boffetta | M. Pawlita | M. Lathrop | U. Gyllensten | P. Brennan | J. D. McKay

https://doi.org/10.1093/hmg/ddv015 Actions

Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system

JOURNAL ARTICLE published 22 April 2016 in Human Molecular Genetics

Authors: Jessica E. Fellmeth | Elena M. Ghanaim | Karen Schindler

https://doi.org/10.1093/hmg/ddw128 Actions

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

JOURNAL ARTICLE published 15 October 2017 in Human Molecular Genetics

Research funded by AFM (AFM 16451 and 19590)

Authors: Emanuela Abiusi | Manuela D’Alessandro | Klaus Dieterich | Loic Quevarec | Sandrina Turczynski | Aurore-Cecile Valfort | Paulette Mezin | Pierre Simon Jouk | Marta Gut | Ivo Gut | Jean Louis Bessereau | Judith Melki

https://doi.org/10.1093/hmg/ddx288 Actions

Effect of diazoxide on Friedreich ataxia models

JOURNAL ARTICLE published 15 March 2018 in Human Molecular Genetics

Authors: Antonella Santoro | Sara Anjomani Virmouni | Eleonora Paradies | Valentina L Villalobos Coa | Sahar Al-Mahdawi | Mee Khoo | Vito Porcelli | Angelo Vozza | Mara Perrone | Nunzio Denora | Franco Taroni | Giuseppe Merla | Luigi Palmieri | Mark A Pook | Carlo M T Marobbio

https://doi.org/10.1093/hmg/ddy016 Actions

Localization of a Tumor Suppressor Gene in 11p15.5 Using the G401 Wilms' Tumor Assay

JOURNAL ARTICLE published February 1996 in Human Molecular Genetics

Authors: Laura Hink Reid | Ande West | Daniel G. Gioeli | Karen K. Phillips | Kevin F. Kelleher | Diana Araujo | Eric J. Stanbridge | Steven F. Dowdy | Daniela S. Gerhard | Bernard E. Weissman

https://doi.org/10.1093/hmg/5.2.239 Actions

Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes

JOURNAL ARTICLE published 27 March 2020 in Human Molecular Genetics

Research funded by Marie Skłodowska-Curie (794386) | Deutsche Forschungsgemeinschaft (AM 103/25-1,SCHI 504/8-1,PO 1539/1-1,SFB877)

Authors: Gretl Hendrickx | Tatyana Danyukova | Anke Baranowsky | Tim Rolvien | Alexandra Angermann | Michaela Schweizer | Johannes Keller | Jörg Schröder | Catherine Meyer-Schwesinger | Nicole Muschol | Chiara Paganini | Antonio Rossi | Michael Amling | Sandra Pohl | Thorsten Schinke

https://doi.org/10.1093/hmg/ddaa006 Actions

Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria

JOURNAL ARTICLE published 1 November 2014 in Human Molecular Genetics

Authors: Fredj ben Bdira | Esperanza González | Paula Pluta | Ana Laín | Arantza Sanz-Parra | Juan Manuel Falcon-Perez | Oscar Millet

https://doi.org/10.1093/hmg/ddu298 Actions

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1

JOURNAL ARTICLE published 1 November 2005 in Human Molecular Genetics

Authors: Karl Hackmann | Arseni Markoff | Feng Qian | Nadia Bogdanova | Gregory G. Germino | Petra Pennekamp | Bernd Dworniczak | Jürgen Horst | Volker Gerke

https://doi.org/10.1093/hmg/ddi356 Actions
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