Opening book details…
About this book
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration by Matthis Synofzik & Tobias B. Haack & Robert Kopajtich & Matteo Gorza & Doron Rapaport & Markus Greiner & Caroline Schönfeld & Clemens Freiberg & Stefan Schorr & Reinhard W. Holl & Michael A. Gonzalez & Andreas Fritsche & Petra Fallier-Becker & Richard... is a book available to read on EtoBox.
- Author
- Matthis Synofzik & Tobias B. Haack & Robert Kopajtich & Matteo Gorza & Doron Rapaport & Markus Greiner & Caroline Schönfeld & Clemens Freiberg & Stefan Schorr & Reinhard W. Holl & Michael A. Gonzalez & Andreas Fritsche & Petra Fallier-Becker & Richard...
- Publisher
- The American Society of Human Genetics
- Language
- EN
More by Matthis Synofzik & Tobias B. Haack & Robert Kopajtich & Matteo Gorza & Doron Rapaport & Markus Greiner & Caroline Schönfeld & Clemens Freiberg & Stefan Schorr & Reinhard W. Holl & Michael A. Gonzalez & Andreas Fritsche & Petra Fallier-Becker & Richard...
Similar books
- Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy — Tobias B. Haack & Erika Ignatius & Javier Calvo-Garrido & Arcangela Iuso & Pirjo Isohanni & Camilla Maffezzini & Tuula Lönnqvist & Anu Suomalainen & Matteo Gorza & Laura S. Kremer & Elisabeth Graf & Monika Hartig & Riccardo Berutti & Martin Paucar &...
- Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus — Sabrina Prudente & Prapaporn Jungtrakoon & Antonella Marucci & Ornella Ludovico & Patinut Buranasupkajorn & Tommaso Mazza & Timothy Hastings & Teresa Milano & Eleonora Morini & Luana Mercuri & Diego Bailetti & Christine Mendonca & Federica Alberico &... (2015)
- Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse — Frederick N. Dong & Amir Amiri-Yekta & Guillaume Martinez & Antoine Saut & Julie Tek & Laurence Stouvenel & Patrick Lorès & Thomas Karaouzène & Nicolas Thierry-Mieg & Véronique Satre & Sophie Brouillet & Abbas Daneshipour & Seyedeh Hanieh Hosseini &... (2018)
- A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration — Maya M. Polovitskaya & Carlo Barbini & Diego Martinelli & Frederike L. Harms & F. Sessions Cole & Paolo Calligari & Gianfranco Bocchinfuso & Lorenzo Stella & Andrea Ciolfi & Marcello Niceta & Teresa Rizza & Marwan Shinawi & Kathleen Sisco & Jessika... (2020)
- Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis — Pamela Magini & Daphne J. Smits & Laura Vandervore & Rachel Schot & Marta Columbaro & Esmee Kasteleijn & Mees van der Ent & Flavia Palombo & Maarten H. Lequin & Marjolein Dremmen & Marie Claire Y. de Wit & Mariasavina Severino & Maria Teresa Divizia &... (2019)
- Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome — Dagmar Wieczorek & William G. Newman & Thomas Wieland & Tea Berulava & Maria Kaffe & Daniela Falkenstein & Christian Beetz & Elisabeth Graf & Thomas Schwarzmayr & Sofia Douzgou & Jill Clayton-Smith & Sarah B. Daly & Simon G. Williams & Sanjeev S....