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Neuromuscular Disorders : NMD
|
February 15, 2025
Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype
Göknur Haliloğlu, Sandra Donkervoort, Ülkühan Öztoprak, et al.
Archives of Neurology
|
November 15, 2006
Cardiac and pulmonary investigations in Bethlem myopathy
Anneke J van der Kooi, Willem G de Voogt, Enrico Bertini, et al.
European Journal of Human Genetics : EJHG
|
April 3, 2008
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
Vilma-Lotta Lehtokari, Katarina Pelin, Kati Donner, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2021
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey
Hülya-Sevcan Daimagüler, Ugur Akpulat, Özkan Özdemir, et al.
The Turkish Journal of Pediatrics
|
April 11, 2019
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center
Gözdem Kaykı, Şafak Güçer, Zuhal Akçören, et al.
Journal of Clinical Medicine Research
|
April 18, 2015
Determination of the presence of diphtheria toxin in the myocardial tissue of rabbits and a female subject by using an immunofluorescent antibody method
Mehmet Ceyhan, Yasemin Ozsurekci, Merve M Aydin, et al.
Biochemical and Biophysical Research Communications
|
March 9, 2002
Deficiency of alpha-dystroglycan in muscle-eye-brain disease
Hiroki Kano, Kazuhiro Kobayashi, Ralf Herrmann, et al.
Clinical Biochemistry
|
July 10, 2003
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
Wenli Zhang, Jiri Vajsar, Pinjiang Cao, et al.
Neuromuscular Disorders : NMD
|
May 27, 2014
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies
Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
Ulrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
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Search research articles
Search
Showing results (81-90 of 118) with videos related to
Sort By:
Page
of 12
Neuromuscular Disorders : NMD
|
February 15, 2025
Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype
Göknur Haliloğlu, Sandra Donkervoort, Ülkühan Öztoprak, et al.
Archives of Neurology
|
November 15, 2006
Cardiac and pulmonary investigations in Bethlem myopathy
Anneke J van der Kooi, Willem G de Voogt, Enrico Bertini, et al.
European Journal of Human Genetics : EJHG
|
April 3, 2008
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
Vilma-Lotta Lehtokari, Katarina Pelin, Kati Donner, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2021
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey
Hülya-Sevcan Daimagüler, Ugur Akpulat, Özkan Özdemir, et al.
The Turkish Journal of Pediatrics
|
April 11, 2019
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center
Gözdem Kaykı, Şafak Güçer, Zuhal Akçören, et al.
Journal of Clinical Medicine Research
|
April 18, 2015
Determination of the presence of diphtheria toxin in the myocardial tissue of rabbits and a female subject by using an immunofluorescent antibody method
Mehmet Ceyhan, Yasemin Ozsurekci, Merve M Aydin, et al.
Biochemical and Biophysical Research Communications
|
March 9, 2002
Deficiency of alpha-dystroglycan in muscle-eye-brain disease
Hiroki Kano, Kazuhiro Kobayashi, Ralf Herrmann, et al.
Clinical Biochemistry
|
July 10, 2003
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
Wenli Zhang, Jiri Vajsar, Pinjiang Cao, et al.
Neuromuscular Disorders : NMD
|
May 27, 2014
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies
Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
Ulrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
Page
of 12