X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (55) 55
male (43) 43
female (40) 40
mutation (34) 34
index medicus (33) 33
genetics & heredity (27) 27
phenotype (26) 26
neurosciences (23) 23
clinical neurology (22) 22
myopathies, structural, congenital - genetics (21) 21
adult (20) 20
centronuclear myopathy (17) 17
genetics (17) 17
middle aged (17) 17
child (16) 16
family (16) 16
diagnosis (15) 15
adolescent (13) 13
mtm1 (13) 13
pedigree (13) 13
congenital myopathy (12) 12
fragile x syndrome - genetics (12) 12
gene (12) 12
life sciences (12) 12
muscle, skeletal - pathology (12) 12
mutations (12) 12
myotubular myopathy (11) 11
neurology (11) 11
base sequence (10) 10
genetic disorders (10) 10
myopathies, structural, congenital - pathology (10) 10
myopathy (10) 10
polymerase chain reaction (10) 10
child, preschool (9) 9
dna mutational analysis (9) 9
genetic aspects (9) 9
molecular sequence data (9) 9
pathology (9) 9
biochemistry & molecular biology (8) 8
human genetics (8) 8
mutation - genetics (8) 8
myopathies, structural, congenital - physiopathology (8) 8
myotubularin (8) 8
biopsy (7) 7
congenital myopathies (7) 7
dynamin ii - genetics (7) 7
infant (7) 7
methylation (7) 7
protein tyrosine phosphatases, non-receptor - genetics (7) 7
aged (6) 6
fragile x syndrome (6) 6
males (6) 6
mental retardation (6) 6
myopathies, structural, congenital - diagnosis (6) 6
polymorphism, genetic (6) 6
protein tyrosine phosphatases - genetics (6) 6
protein tyrosine phosphatases, non-receptor (6) 6
research (6) 6
skeletal-muscle (6) 6
x-linked myotubular myopathy (6) 6
alleles (5) 5
blotting, southern (5) 5
chromosome (5) 5
chromosome mapping (5) 5
chromosomes, human, x (5) 5
cohort studies (5) 5
deletion (5) 5
dna methylation (5) 5
fragile x mental retardation protein (5) 5
gene mutations (5) 5
genes (5) 5
genetic counseling (5) 5
genetic testing (5) 5
genotype (5) 5
heterozygote (5) 5
intellectual disability - genetics (5) 5
medicine & public health (5) 5
muscles (5) 5
muscular diseases - genetics (5) 5
phenotypes (5) 5
phosphatase (5) 5
population (5) 5
proteins (5) 5
syndrome (5) 5
x chromosome (5) 5
[ sdv.bbm.bm ] life sciences [q-bio]/biochemistry, molecular biology/molecular biology (4) 4
[ sdv.gen.gh ] life sciences [q-bio]/genetics/human genetics (4) 4
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (4) 4
adaptor proteins, signal transducing - genetics (4) 4
age of onset (4) 4
biochemistry, molecular biology (4) 4
cgg repeat (4) 4
children (4) 4
disease (4) 4
dna (4) 4
dna - genetics (4) 4
dnm2 (4) 4
domain (4) 4
exons (4) 4
genetic screening (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 09/2007, Volume 39, Issue 9, pp. 1134 - 1139
Journal Article
by Böhm, Johann and Biancalana, Valerie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz-Laguna, Andoni and Wallgren-Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Ousager, Lilian Bomme and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S.B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Aldea, Juan José Poza and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin-Garraud, Valérie and roud, Christophe Bé and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A.H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Spitale, Allison Brennan and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean-Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2015, Volume 23, Issue 4, pp. 417 - 425
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2015, Volume 2, Issue 3, pp. 193 - 203
Massively parallel sequencing is revolutionizing the genetic testing in diagnosis laboratories, replacing gene-by-gene investigations with a "gene panel"... 
Genome Sequencing | Genetic Testing | Exome Sequencing | Targeted Genes Panel Sequencing | Myasthenia | Dystrophy | Mutation | Neuropathy | Next Generation Sequencing | Myopathy | Neuromuscular Disease
Journal Article