Sortiert nach
Journal of medical genetics, 2017-07, Vol.54 (7), p.490
2017
Link zum Volltext
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
2019
Link zum Volltext
Annals of neurology, 2004-11, Vol.56 (5), p.738-741
2004
Link zum Volltext
Canadian Medical Association journal (CMAJ), 2024-01, Vol.196 (3), p.E95
2024
Link zum Volltext
Nature cell biology, 2015-08, Vol.17 (8), p.1074
- Wheway, Gabrielle
- Schmidts, Miriam
- Mans, Dorus A
- Szymanska, Katarzyna
- Nguyen, Thanh-Minh T
- Racher, Hilary
- Phelps, Ian G
- Toedt, Grischa
- Kennedy, Julie
- Wunderlich, Kirsten A
- Sorusch, Nasrin
- Abdelhamed, Zakia A
- Natarajan, Subaashini
- Herridge, Warren
- van Reeuwijk, Jeroen
- Horn, Nicola
- Boldt, Karsten
- Parry, David A
- Letteboer, Stef J F
- Roosing, Susanne
- Adams, Matthew
- Bell, Sandra M
- Bond, Jacquelyn
- Higgins, Julie
- Morrison, Ewan E
- Tomlinson, Darren C
- Slaats, Gisela G
- van Dam, Teunis J P
- Huang, Lijia
- Kessler, Kristin
- Giessl, Andreas
- Logan, Clare V
- Boyle, Evan A
- Shendure, Jay
- Anazi, Shamsa
- Aldahmesh, Mohammed
- Al Hazzaa, Selwa
- Hegele, Robert A
- Ober, Carole
- Frosk, Patrick
- Mhanni, Aizeddin A
- Chodirker, Bernard N
- Chudley, Albert E
- Lamont, Ryan
- Bernier, Francois P
- Beaulieu, Chandree L
- Gordon, Paul
- Pon, Richard T
- Donahue, Clem
- Barkovich, A James
- Wolf, Louis
- Toomes, Carmel
- Thiel, Christian T
- Boycott, Kym M
- McKibbin, Martin
- Inglehearn, Chris F
- Stewart, Fiona
- Omran, Heymut
- Huynen, Martijn A
- Sergouniotis, Panagiotis I
- Alkuraya, Fowzan S
- Parboosingh, Jillian S
- Innes, A Micheil
- Willoughby, Colin E
- Giles, Rachel H
- Webster, Andrew R
- Ueffing, Marius
- Blacque, Oliver
- Gleeson, Joseph G
- Wolfrum, Uwe
- Beales, Philip L
- Gibson, Toby
- Doherty, Dan
- Mitchison, Hannah M
- Roepman, Ronald
- Johnson, Colin A
2015
Link zum Volltext
Canadian journal of neurological sciences, 2021-05, Vol.48 (3), p.435-437
2021
Link zum Volltext
Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.381-393
- Vavassori, Stefano
- Chou, Janet
- Faletti, Laura Eva
- Haunerdinger, Veronika
- Opitz, Lennart
- Joset, Pascal
- Fraser, Christopher J.
- Prader, Seraina
- Gao, Xianfei
- Schuch, Luise A.
- Wagner, Matias
- Hoefele, Julia
- Maccari, Maria Elena
- Zhu, Ying
- Elakis, George
- Gabbett, Michael T.
- Forstner, Maria
- Omran, Heymut
- Kaiser, Thomas
- Kessler, Christina
- Olbrich, Heike
- Frosk, Patrick
- Almutairi, Abduarahman
- Platt, Craig D.
- Elkins, Megan
- Weeks, Sabrina
- Rubin, Tamar
- Planas, Raquel
- Marchetti, Tommaso
- Koovely, Danil
- Klämbt, Verena
- Soliman, Neveen A.
- von Hardenberg, Sandra
- Klemann, Christian
- Baumann, Ulrich
- Lenz, Dominic
- Klein-Franke, Andreas
- Schwemmle, Martin
- Huber, Michael
- Sturm, Ekkehard
- Hartleif, Steffen
- Häffner, Karsten
- Gimpel, Charlotte
- Brotschi, Barbara
- Laube, Guido
- Güngör, Tayfun
- Buckley, Michael F.
- Kottke, Raimund
- Staufner, Christian
- Hildebrandt, Friedhelm
- Reu-Hofer, Simone
- Moll, Solange
- Weber, Achim
- Kaur, Hundeep
- Ehl, Stephan
- Hiller, Sebastian
- Geha, Raif
- Roscioli, Tony
- Griese, Matthias
- Pachlopnik Schmid, Jana
2021
Link zum Volltext
Human molecular genetics, 2022-02, Vol.31 (4), p.614-624
2022
Link zum Volltext
Nature communications, 2021-05, Vol.12 (1), p.2558-2558, Article 2558
- Kour, Sukhleen
- Rajan, Deepa S
- Fortuna, Tyler R
- Anderson, Eric N
- Ward, Caroline
- Lee, Youngha
- Lee, Sangmoon
- Shin, Yong Beom
- Chae, Jong-Hee
- Choi, Murim
- Siquier, Karine
- Cantagrel, Vincent
- Amiel, Jeanne
- Stolerman, Elliot S
- Barnett, Sarah S
- Cousin, Margot A
- Castro, Diana
- McDonald, Kimberly
- Kirmse, Brian
- Nemeth, Andrea H
- Rajasundaram, Dhivyaa
- Innes, A Micheil
- Lynch, Danielle
- Frosk, Patrick
- Collins, Abigail
- Gibbons, Melissa
- Yang, Michele
- Desguerre, Isabelle
- Boddaert, Nathalie
- Gitiaux, Cyril
- Rydning, Siri Lynne
- Selmer, Kaja K
- Urreizti, Roser
- Garcia-Oguiza, Alberto
- Osorio, Andrés Nascimento
- Verdura, Edgard
- Pujol, Aurora
- McCurry, Hannah R
- Landers, John E
- Agnihotri, Sameer
- Andriescu, E Corina
- Moody, Shade B
- Phornphutkul, Chanika
- Sacoto, Maria J Guillen
- Begtrup, Amber
- Houlden, Henry
- Kirschner, Janbernd
- Schorling, David
- Rudnik-Schöneborn, Sabine
- Strom, Tim M
- Leiz, Steffen
- Juliette, Kali
- Richardson, Randal
- Yang, Ying
- Zhang, Yuehua
- Wang, Minghui
- Wang, Jia
- Wang, Xiaodong
- Platzer, Konrad
- Donkervoort, Sandra
- Bönnemann, Carsten G
- Wagner, Matias
- Issa, Mahmoud Y
- Elbendary, Hasnaa M
- Stanley, Valentina
- Maroofian, Reza
- Gleeson, Joseph G
- Zaki, Maha S
- Senderek, Jan
- Pandey, Udai Bhan
2021
Link zum Volltext
American journal of medical genetics. Part A, 2019-02, Vol.179 (2)
2019
Link zum Volltext
American journal of human genetics, 2020-02, Vol.106 (2), p.143-152
- Boycott, Kym M.
- Campeau, Philippe M.
- Howley, Heather E.
- Pavlidis, Paul
- Rogic, Sanja
- Oriel, Christine
- Berman, Jason N.
- Hamilton, Robert M.
- Hicks, Geoffrey G.
- Lipshitz, Howard D.
- Masson, Jean-Yves
- Shoubridge, Eric. A.
- Junker, Anne
- Leroux, Michel R.
- McMaster, Christopher R.
- Michaud, Jaques L.
- Turvey, Stuart E.
- Dyment, David
- Innes, A. Micheil
- van Karnebeek, Clara D.
- Lehman, Anna
- Cohn, Ronald D.
- MacDonald, Ian M.
- Rachubinski, Richard A.
- Frosk, Patrick
- Vandersteen, Anthony
- Wozniak, Richard W.
- Pena, Izabella A.
- Wen, Xiao-Yan
- Lacaze-Masmonteil, Thierry
- Rankin, Catharine
- Hieter, Philip
2020
Link zum Volltext
American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.206-218
2019
Link zum Volltext
American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63466-n/a
- Kock, Leanne
- Cuillerier, Alexanne
- Gillespie, Meredith
- Couse, Madeline
- Hartley, Taila
- Mears, Wendy
- Bernier, Francois P.
- Chudley, Albert E.
- Frosk, Patrick
- Nikkel, Sarah M.
- Innes, A. Micheil
- Lauzon, Julie
- Thomas, Maryann
- Guerin, Andrea
- Armour, Christine M.
- Weksberg, Rosanna
- Scott, James N.
- Watkins, Debra
- Harvey, Shirley
- Cytrynbaum, Cheryl
- Kernohan, Kristin D.
- Boycott, Kym M.
2024
Link zum Volltext
Neuro-oncology (Charlottesville, Va.), 2016-11, Vol.18 (suppl_6), p.vi164-vi164
2016
Link zum Volltext
Clinical dysmorphology, 2021-04, Vol.30 (2), p.83
2021
Link zum Volltext
European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1405-1417
- Whalen, Sandra
- Shaw, Marie
- Mignot, Cyril
- Héron, Delphine
- Bastaraud, Sandra Chantot
- Walti, Cecile Cieuta
- Liebelt, Jan
- Elmslie, Frances
- Yap, Patrick
- Hurst, Jane
- Forsythe, Elisabeth
- Kirmse, Brian
- Ozmore, Jillian
- Spinelli, Alessandro Mauro
- Calabrese, Olga
- de Villemeur, Thierry Billette
- Tabet, Anne Claude
- Levy, Jonathan
- Guet, Agnes
- Kossorotoff, Manoëlle
- Kamien, Benjamin
- Morton, Jenny
- McCabe, Anne
- Brischoux-Boucher, Elise
- Raas-Rothschild, Annick
- Pini, Antonella
- Carroll, Renée
- Hartley, Jessica N
- Frosk, Patrick
- Slavotinek, Anne
- Truxal, Kristen
- Jennifer, Carroll
- Dheedene, Annelies
- Cui, Hong
- Kumar, Vishal
- Thomson, Glen
- Riccardi, Florence
- Gecz, Jozef
- Villard, Laurent
2021
Link zum Volltext
Pediatric allergy and immunology, 2018-09, Vol.29 (6), p.663-668
2018
Link zum Volltext
Clinical biochemistry, 2015-10, Vol.48 (15), p.1018-1019
2015
Link zum Volltext
The Journal of biological chemistry, 2006-09, Vol.281 (35), p.25850-25866
2006
Link zum Volltext
Journal of child neurology, 2013-03, Vol.28 (3), p.389-391
2013
Link zum Volltext
American journal of human genetics, 2002-03, Vol.70 (3), p.663-672
2002
Link zum Volltext
Pediatric allergy and immunology, 2018-09, Vol.29 (6), p.663-668
2018
Link zum Volltext
Brain (London, England : 1878), 2005-04, Vol.128 (4), p.711-722
2005
Link zum Volltext
Neuropathology and applied neurobiology, 2014-12, Vol.40 (7), p.946
2014
Link zum Volltext
Annals of neurology, 2005-04, Vol.57 (4), p.591-595
2005
Link zum Volltext
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Sprache
Erscheinungsjahr
n.n
n.n
Thema
- Humans
- Science & Technology
- Life Sciences & Biomedicine
- Female
- Male
- Genetics & Heredity
- Mutation
- Child, Preschool
- Phenotype
- Infant
- Animals
- Child
- Clinical Neurology
- Neurosciences & Neurology
- Pedigree
- Adult
- Biological And Medical Sciences
- Dna Mutational Analysis
- Medical Sciences
- Muscular Dystrophies, Limb-Girdle - Genetics
Kollektion
- MEDLINE
- WK Lippincott Williams & Wilkins–Connect here FIRST to enable access
- EZB Electronic Journals Library
- Ingenta
- Wiley Online Library Journals
- Wiley Online Library Full Collection 2018
- NUS Single-Journal Subscriptions
- IngentaConnect Journals
- Nature
- ScienceDirect
- Oxford journals
- Oxford Journals 2020 Medicine
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Cambridge Journals Online (DEFF)
- Sage
- ProQuest Dissertations & Theses A&I
- BMJ
- SpringerLink (Online service)
- BMJ Journals Archiv - DFG Nationallizenzen
Zeitschrift / Serie
- American Journal Of Human Genetics
- American Journal Of Medical Genetics. Part A
- European Journal Of Human Genetics : Ejhg
- The Journal Of Biological Chemistry
- Annals Of Neurology
- Human Mutation
- Journal Of Child Neurology
- Neuropathology And Applied Neurobiology
- Pediatric Allergy And Immunology
- Bmc Medical Genetics