Michalk, Anne ; Stricker, Sigmar 
; Becker, Jutta ; Rupps, Rosemarie ; Pantzar, Tapio ; Miertus, Jan ; Botta, Giovanni ; Naretto, Valeria G. ; Janetzki, Catrin ; Yaqoob, Nausheen ; Ott, Claus-Eric ; Seelow, Dominik ; Wieczorek, Dagmar ; Fiebig, Britta ; Wirth, Brunhilde ; Hoopmann, Markus ; Walther, Marisa ; Körber, Friederike ; Blankenburg, Markus ; Mundlos, Stefan ; Heller, Raoul ; Hoffmann, Katrin
; Becker, Jutta ; Rupps, Rosemarie ; Pantzar, Tapio ; Miertus, Jan ; Botta, Giovanni ; Naretto, Valeria G. ; Janetzki, Catrin ; Yaqoob, Nausheen ; Ott, Claus-Eric ; Seelow, Dominik ; Wieczorek, Dagmar ; Fiebig, Britta ; Wirth, Brunhilde ; Hoopmann, Markus ; Walther, Marisa ; Körber, Friederike ; Blankenburg, Markus ; Mundlos, Stefan ; Heller, Raoul ; Hoffmann, Katrin Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders
Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric , Seelow, Dominik , Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul and Hoffmann, Katrin
(2008)
Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders.
The American Journal of Human Genetics 82 (2), pp. 464-476.
Date of publication of this fulltext: 19 Dec 2024 13:23
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| Item type | Article | ||||
| Journal or Publication Title | The American Journal of Human Genetics | ||||
| Publisher: | CELL PRESS | ||||
|---|---|---|---|---|---|
| Place of Publication: | CAMBRIDGE | ||||
| Volume: | 82 | ||||
| Number of Issue or Book Chapter: | 2 | ||||
| Page Range: | pp. 464-476 | ||||
| Date | 2008 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | ARTHROGRYPOSIS MULTIPLEX CONGENITA; NEUROMUSCULAR-JUNCTION SYNAPTOPATHY; DELTA-SUBUNIT MUTATION; MYASTHENIC SYNDROME; PTERYGIUM SYNDROME; RAPSYN MUTATIONS; BINDING; LETHAL; UNDERLIE; ORIGIN; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 68395 |
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