X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (266) 266
Publication (11) 11
Conference Proceeding (3) 3
Newspaper Article (3) 3
Book / eBook (2) 2
Book Chapter (1) 1
Dissertation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (115) 115
male (72) 72
female (69) 69
pediatrics (55) 55
child (50) 50
index medicus (48) 48
neurology (41) 41
adolescent (39) 39
child, preschool (35) 35
clinical neurology (33) 33
infant (29) 29
neurosciences (28) 28
muscular dystrophies - genetics (27) 27
mutation (26) 26
adult (25) 25
pedigree (24) 24
genetic aspects (23) 23
phenotype (23) 23
genetics & heredity (20) 20
muscle, skeletal - pathology (19) 19
disease (18) 18
infant, newborn (18) 18
gene (16) 16
genetic disorders (16) 16
magnetic resonance imaging (15) 15
mutations (15) 15
animals (14) 14
children (14) 14
muscular dystrophies - pathology (14) 14
alpha-dystroglycan (13) 13
genetics (13) 13
surgery (13) 13
diagnosis (12) 12
muscle (12) 12
muscular dystrophy (12) 12
pregnancy (12) 12
analysis (11) 11
article (11) 11
consanguinity (11) 11
research (11) 11
dna mutational analysis (10) 10
expression (10) 10
muscle, skeletal - metabolism (10) 10
muscular dystrophies - metabolism (10) 10
genes, recessive (9) 9
health aspects (9) 9
medicine & public health (9) 9
congenital muscular dystrophy (8) 8
gene mutations (8) 8
genetic research (8) 8
glycosylation (8) 8
immunohistochemistry (8) 8
intellectual disability - genetics (8) 8
laminin (8) 8
muscular dystrophies - congenital (8) 8
muscular dystrophies, limb-girdle - genetics (8) 8
pathology (8) 8
retrospective studies (8) 8
turkey (8) 8
walker-warburg-syndrome (8) 8
amino acid sequence (7) 7
biopsy (7) 7
brain - abnormalities (7) 7
brain - pathology (7) 7
congenital muscular-dystrophy (7) 7
genotype (7) 7
mental-retardation (7) 7
n-acetylglucosaminyltransferases - genetics (7) 7
prenatal diagnosis (7) 7
severity of illness index (7) 7
skeletal-muscle (7) 7
treatment outcome (7) 7
abnormal glycosylation (6) 6
biochemistry & molecular biology (6) 6
deficiency (6) 6
deletion (6) 6
diagnosis, differential (6) 6
disease models, animal (6) 6
follow-up studies (6) 6
fukuyama-type (6) 6
genes (6) 6
laminin - deficiency (6) 6
molecular sequence data (6) 6
muscular dystrophies - complications (6) 6
muscular dystrophies - diagnosis (6) 6
musculoskeletal diseases (6) 6
mutation - genetics (6) 6
myopathy (6) 6
tomography, x-ray computed (6) 6
childhood (5) 5
chromosome mapping (5) 5
cohort studies (5) 5
cytoskeletal proteins - deficiency (5) 5
defects (5) 5
dystroglycans (5) 5
eye-brain disease (5) 5
fatal outcome (5) 5
glycosyltransferase (5) 5
infants (5) 5
laminin - metabolism (5) 5
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1130 - 1145
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a... 
VIALETTO-VAN LAERE | COFACTORS | ELECTRON-TRANSFER FLAVOPROTEIN | ESCHERICHIA-COLI | MITOCHONDRIA | DISEASE | GENETICS & HEREDITY | OVER-EXPRESSION | SYNTHETASE | FUNCTIONAL-CHARACTERIZATION | ISOFORM 2 | Mitochondrial Diseases - pathology | Electron Transport | Liver - pathology | Skin - metabolism | Humans | Infant | Male | Muscle, Skeletal - metabolism | Gene Expression Profiling | Riboflavin - pharmacology | Case-Control Studies | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy | Young Adult | Flavin-Adenine Dinucleotide - metabolism | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics | Liver - drug effects | Muscle, Skeletal - drug effects | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Adult | Female | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Real-Time Polymerase Chain Reaction | Frameshift Mutation - genetics | Infant, Newborn | Skin - pathology | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Mitochondrial Diseases - drug therapy | Mutagenesis, Site-Directed | Liver - metabolism | RNA, Messenger - genetics | Cells, Cultured | Fibroblasts - pathology | Reverse Transcriptase Polymerase Chain Reaction | Vitamin B Complex - pharmacology | Blotting, Western | Fibroblasts - drug effects | Nucleotidyltransferases - genetics | Protein Binding | Muscle, Skeletal - pathology | Skin - drug effects | Vitamin B2 | Oxidoreductases | Gene mutations | Health aspects | Life Sciences
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1086 - 1105
Journal Article
Journal Article
by F. De Benedetti and J. Anton and M. Gattorno and H. Lachmann and I. Kone-Paut and S. Ozen and J. Frenkel and A. Simon and A. Zeft and E. Ben-Chetrit and H. M. Hoffman and Y. Joubert and K. Lheritier and A. Speziale and J. Guido and Roberta Caorsi and Federica Penco and Alice Grossi and Antonella Insalaco and Maria Alessio and Giovanni Conti and Federico Marchetti and Alberto Tommasini and Silvana Martino and Romina Gallizzi and Annalisa Salis and Francesca Schena and Francesco Caroli and Alberto Martini and Gianluca Damonte and Isabella Ceccherini and Marco Gattorno and Marie-Louise Frémond and Carolina Uggenti and Lien Van Eyck and Isabelle Melki and Darragh Duffy and Vincent Bondet and Yoann Rose and Bénédicte Neven and Yanick Crow and Mathieu P. Rodero and Yvonne Kusche and Johannes Roth and Katarzyna Barczyk-Kahlert and Giovanna Ferrara and Annalisa Chiocchetti and Silvio Polizzi and Josef Vuch and Diego Vozzi and Anna Mondino and Erica Valencic and Serena Pastore and Andrea Taddio and Flavio Faletra and Umberto Dianzani and Ugo Ramenghi and Alberto Tommasini and Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Tsai and Amanda Ombrello and Tina Romeo and Elaine F. Remmers and JaeJin Chae and Massimo Gadina and Steven Welch and Seza Ozen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich and Donatella Vairo and Rosalba Monica Ferraro and Giulia Zani and Jessica Galli and Micaela De Simone and Marco Cattalini and Elisa Fazzi and Silvia Giliani and Ebun Omoyinmi and Ariane Standing and Dorota Rowczenio and Annette Keylock and Sonia Melo Gomes and Fiona Price-Kuehne and Sira Nanthapisal and Claire Murphy and Thomas Cullup and Lucy Jenkins and Kimberly Gilmour and Despina Eleftheriou and Helen Lachmann and Philip Hawkins and Nigel Klein and Paul Brogan and Anita Dhanrajani and ...
Pediatric Rheumatology Online Journal, 05/2017, Volume 15, Issue S1, pp. 1 - 104
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 218 - 226
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 6 - 18
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2015, Volume 10, Issue 1, p. 148
Journal Article
Journal Article
Nephron, ISSN 1660-8151, 07/2019, Volume 142, Issue 3, pp. 258 - 263
The most common disorder of vitamin B12 metabolism is methylmalonic aciduria and homocystinuria type cobalamin C (cblC), which accounts for most of the cases... 
Experimental Nephrology and Genetics: Case Study of Genetic Interest | MMACHC gene | HOMOCYSTINURIA CBLC | Cobalamin C deficiency | Hemolytic uremic syndrome | UROLOGY & NEPHROLOGY | SPECTRUM | MUTATIONS | Homocysteine | HYPERTENSION | COMBINED METHYLMALONIC ACIDURIA | MMACHC | RENAL THROMBOTIC MICROANGIOPATHY
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e232 - e232
Journal Article
Journal Article