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1. Full Text Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
by Cecchetti, Serena and Ma'ayan, Avi and Di Schiavi, Elia and Selicorni, Angelo and Martinelli, Simone and Dallapiccola, Bruno and Cardinale, Alessio and Ferrero, Giovanni B and Zampino, Giuseppe and Digilio, Maria C and Mazzanti, Laura and Lipzen, Anna and Sarkozy, Anna and Schackwitz, Wendy and Kutsche, Kerstin and Merlo, Daniela and Anichini, Cecilia and Lepri, Francesca and Pennacchio, Len A and Tenconi, Romano and Bazzicalupo, Paolo and Tartaglia, Marco and Cordeddu, Viviana and Bartholdi, Deborah and Iyengar, Ravi and Martin, Joel and Flex, Elisabetta and Fodale, Valentina and Zenker, Martin and Rossi, Cesare and Gelb, Bruce D and Joint Genome Institute (JGI)
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1022 - 1026
N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine... 
INTERACTION DATABASE | NETWORK | SUR-8 | RAS | PHOSPHATASE | GENETICS & HEREDITY | C-ELEGANS | PTPN11 | Humans | Actins - metabolism | Fluorescent Dyes - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Indoles - metabolism | Myristic Acid - metabolism | Cell Nucleus - metabolism | Noonan Syndrome - metabolism | Cytoskeleton - metabolism | Germ-Line Mutation | Mutation | Hair - growth & development | Intracellular Signaling Peptides and Proteins - genetics | Fluorescent Antibody Technique, Indirect | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | DNA binding proteins | Health aspects | Risk factors | Proteins | Signal transduction | Genotype & phenotype | Statistical analysis | Growth hormones | Statistical methods | Graph theory | Genetic testing | Index Medicus
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2. Full Text Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
by Gibson, Kate and Martin, Joel and Pandit, Bhaswati and Yadav, Kamlesh K and Neri, Cinzia and Digilio, Maria Cristina and Fodale, Valentina and Martinelli, Simone and Tartaglia, Marco and Curry, Cynthia J and Pennacchio, Len A and Siguero, Juan Pedro López and Dallapiccola, Bruno and Gelb, Bruce D and Bar-Sagi, Dafna and Carta, Claudio and Zhao, Chen and Lepri, Francesca and Oishi, Kimihiko and Vasta, Isabella and Zampino, Giuseppe and Bristow, James and Sarkozy, Anna and Ustaszewska, Anna and Schackwitz, Wendy
Nature Genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 75 - 79
Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies(1). Increased... 
SEVENLESS | MUTANTS | GENE | FACIO-CUTANEOUS SYNDROME | PATHWAY | GENETICS & HEREDITY | GERMLINE MUTATIONS | PHENOTYPE | PTPN11 MUTATIONS | KRAS | RAS ACTIVATOR SON | Animals | Genetic Testing | Transfection | Humans | SOS1 Protein - genetics | Cercopithecus aethiops | Models, Molecular | Mutation | DNA Mutational Analysis - methods | Noonan Syndrome - genetics | SOS1 Protein - chemistry | COS Cells | Complications and side effects | Diagnosis | Research | Gene mutations | Noonan syndrome | Risk factors | Heart | Genotype & phenotype | Birth defects | Genetic disorders | Index Medicus
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3. Full Text Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
by Sarkozy, Anna and López Siguero, Juan P and Tartaglia, Marco and Ackerman, Michael J and Rossi, Cesare and Digilio, Maria C and Mundel, Peter and Torrente, Isabella and Tenconi, Romano and Mazzanti, Laura and Selicorni, Angelo and Landstrom, Andrew and Marino, Bruno and Bos, J Martijn and Pogna, Edgar A and Oishi, Kimihiko and Gelb, Bruce D and Martinelli, Simone and Schackwitz, Wendy and Pennacchio, Len A and Carta, Claudio and Pandit, Bhaswati and Ustaszewska, Anna and Zampino, Giuseppe and Ommen, Steve R and Dallapiccola, Bruno and Esposito, Giorgia and Lepri, Francesca and Faul, Christian
Nature Genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 1007 - 1012
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short stature and facial dysmorphia.... 
PHENOTYPE CORRELATION | SIGNALING PATHWAY | COSTELLO-SYNDROME | CARDIAC-HYPERTROPHY | GENETICS & HEREDITY | GERMLINE MUTATIONS | C-RAF | PTPN11 MUTATIONS | B-RAF | HUMAN CANCER | TRANSGENIC MICE | Protein Structure, Tertiary | Cardiomyopathy, Hypertrophic - genetics | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Proto-Oncogene Proteins c-raf - genetics | Signal Transduction | Cardiomyopathy, Hypertrophic - metabolism | Humans | LEOPARD Syndrome - metabolism | LEOPARD Syndrome - genetics | Cercopithecus aethiops | ras Proteins - metabolism | Mutation, Missense | Noonan Syndrome - genetics | Proto-Oncogene Proteins c-raf - metabolism | Protein Tyrosine Phosphatases - genetics | Animals | Transfection | Proto-Oncogene Proteins c-raf - chemistry | Noonan Syndrome - metabolism | COS Cells | Intracellular Signaling Peptides and Proteins - genetics | Complications and side effects | Cardiomyopathy, Hypertrophic | Gene mutations | Noonan syndrome | Genetic aspects | Diagnosis | Risk factors | Signal transduction | Genetics | Cardiovascular disease | Mutation | Developmental disabilities | Binding sites | Index Medicus
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4. Full Text Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy
by Srinivasan, Ramesh and Rawlings, David and Wood, Claire L and Cheetham, Tim and Moreno, Aura Cecilia Jimenez and Mayhew, Anna and Eagle, Michelle and Guglieri, Michela and Straub, Volker and Owen, Catherine and Bushby, Kate and Sarkozy, Anna
Muscle & Nerve, ISSN 0148-639X, 07/2016, Volume 54, Issue 1, pp. 79 - 85
IntroductionWe assessed prophylactic use of bisphosphonate (BP) in Duchenne muscular dystrophy (DMD) patients on glucocorticoid (GC) therapy. MethodsFifty-two... 
prophylactic therapy | glucocorticoid | Duchenne muscular dystrophy | bisphosphonate | bone | osteoporosis | risedronate | BONE-DENSITY | NEUROSCIENCES | ALENDRONATE | CLINICAL NEUROLOGY | HEALTHY-CHILDREN | VERTEBRAL FRACTURES | BOYS | Bone Density | Administration, Oral | Humans | Risedronate Sodium - administration & dosage | Adolescent | Female | Male | Bone Density Conservation Agents - administration & dosage | Muscular Dystrophy, Duchenne - prevention & control | Child | Cohort Studies | Osteoporosis | Corticosteroids | Bones | Density | Medicine, Preventive | Preventive health services | Index Medicus
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5. Full Text Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Index Medicus | Genètica
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6. Full Text Multivariate Analysis of Dopaminergic Gene Variants as Risk Factors of Heroin Dependence
by Vereczkei, Andrea and Demetrovics, Zsolt and Szekely, Anna and Sarkozy, Peter and Antal, Peter and Szilagyi, Agnes and Sasvari-Szekely, Maria and Barta, Csaba
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e66592 - e66592
Background: Heroin dependence is a debilitating psychiatric disorder with complex inheritance. Since the dopaminergic system has a key role in rewarding... 
ASSOCIATION ANALYSIS | FUNCTIONAL POLYMORPHISM | DEFICIT HYPERACTIVITY DISORDER | TRANSPORTER GENE | MULTIDISCIPLINARY SCIENCES | PROMOTER REGION | NOVELTY SEEKING | FACTOR-KAPPA-B | RECEPTOR DRD4 GENE | EXON-III POLYMORPHISM | TANDEM DUPLICATION POLYMORPHISM | Haplotypes | Multivariate Analysis | Humans | Middle Aged | Male | Catechol O-Methyltransferase - genetics | Receptors, Dopamine D4 - genetics | Case-Control Studies | Young Adult | Adult | Female | Heroin Dependence - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Risk Factors | Protein-Serine-Threonine Kinases - genetics | Dopamine Plasma Membrane Transport Proteins - genetics | Receptors, Dopamine D2 - genetics | Linkage Disequilibrium | Polymorphism, Restriction Fragment Length | Adolescent | Bayes Theorem | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Catechin | Genes | Illegal drugs | Genetic research | Genetic aspects | Single nucleotide polymorphisms | Mental illness | Risk factors | Heroin | Heroin habit | Dopamine receptors | Attention deficit disorder | Drugs | Drug abuse | Brain | Neurobiology | Single-nucleotide polymorphism | Multivariate analysis | Kinases | Dopamine D4 receptors | Gene polymorphism | Information systems | Addictive behaviors | Dopamine transporter | Dopamine D2 receptors | Dopamine | Narcotics | Alcoholism | Catechol | Heredity | Risk analysis | Addictions | Studies | Hypotheses | Multilevel | Alleles | Cocaine | Ankyrin | Molecular biology | Psychiatry | Bayesian analysis | Transporter | Polymorphism | Smoking | Index Medicus
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7. Full Text Clinical features of the myasthenic syndrome arising from mutations in GMPPB
by Rodríguez Cruz, Pedro M and Belaya, Katsiaryna and Basiri, Keivan and Sedghi, Maryam and Farrugia, Maria Elena and Holton, Janice L and Liu, Wei Wei and Maxwell, Susan and Petty, Richard and Walls, Timothy J and Kennett, Robin and Pitt, Matthew and Sarkozy, Anna and Parton, Matt and Lochmüller, Hanns and Muntoni, Francesco and Palace, Jacqueline and Beeson, David
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2016, Volume 87, Issue 8, pp. 802 - 809
BackgroundCongenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the... 
DPAGT1 | SURGERY | PSYCHIATRY | UNDERLIE | GFPT1 | MUSCLE | DISORDERS | NEUROMUSCULAR-JUNCTION SYNAPTOPATHY | GLYCOSYLATION | EXPRESSION | CLINICAL NEUROLOGY | Myasthenic Syndromes, Congenital - genetics | Creatine Kinase - blood | Myasthenic Syndromes, Congenital - diagnosis | Humans | Middle Aged | Dystroglycans - metabolism | Male | Glycosylation | Myasthenic Syndromes, Congenital - metabolism | Young Adult | Adolescent | Nucleotidyltransferases - genetics | Adult | Female | Aged | Cognitive Dysfunction - complications | Mutation | Myasthenic Syndromes, Congenital - physiopathology | Congenital myasthenic syndromes | Care and treatment | Diagnosis | Gene mutations | Patients | Analysis | Index Medicus
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8. Full Text Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum
by Sarkozy, Anna and Carta, Claudio and Moretti, Sonia and Zampino, Giuseppe and Digilio, Maria C and Pantaleoni, Francesca and Scioletti, Anna Paola and Esposito, Giorgia and Cordeddu, Viviana and Lepri, Francesca and Petrangeli, Valentina and Dentici, Maria L and Mancini, Grazia M. S and Selicorni, Angelo and Rossi, Cesare and Mazzanti, Laura and Marino, Bruno and Ferrero, Giovanni B and Silengo, Margherita Cirillo and Memo, Luigi and Stanzial, Franco and Faravelli, Francesca and Stuppia, Liborio and Puxeddu, Efisio and Gelb, Bruce D and Dallapiccola, Bruno and Tartaglia, Marco
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Noonan, LEOPARD, and cardiofaciocutaneous Syndromes (NS, LS, and CFCS) are developmental disorders with overlapping features including distinctive facial... 
Cardiofaciocutaneous syndrome | Noonan syndrome | Functional studies | BRAF | Genotype-phenotype correlation | Mutation analysis | CFCS | Leopard syndrome | SOMATIC PTPN11 MUTATIONS | functional studies | noonan syndrome | FACIO-CUTANEOUS SYNDROME | RAS | GENOTYPE | genotype-phenotype correlation | CFC SYNDROME | DISORDERS | OF-FUNCTION MUTATIONS | KRAS MUTATIONS | mutation analysis | COSTELLO-SYNDROME | GENETICS & HEREDITY | LEUKEMIA | cardiofaciocutaneous syndrome | LEOPARD syndrome | Abnormalities, Multiple - pathology | Skin Abnormalities | Face - abnormalities | Gene Frequency | Humans | Heart Defects, Congenital - pathology | LEOPARD Syndrome - genetics | Genotype | Male | Mutation, Missense | Noonan Syndrome - genetics | Genetic Variation | Noonan Syndrome - pathology | Phenotype | Proto-Oncogene Proteins B-raf - genetics | LEOPARD Syndrome - pathology | Germ-Line Mutation | Female | Abnormalities, Multiple - genetics | Cohort Studies | Index Medicus
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9. Full Text Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy
: Prophylactic Bisphosphonate Therapy in DMD
by Srinivasan, Ramesh and Rawlings, David and Wood, Claire L and Cheetham, Tim and Moreno, Aura Cecilia Jimenez and Mayhew, Anna and Eagle, Michelle and Guglieri, Michela and Straub, Volker and Owen, Catherine and Bushby, Kate and Sarkozy, Anna
Muscle & Nerve, ISSN 0148-639X, 06/2016, Volume 54, Issue 1, pp. 79 - 85
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10. Full Text Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
by Klein, Andrea and Lillis, Suzanne and Munteanu, Iulia and Scoto, Mariacristina and Zhou, Haiyan and Quinlivan, Ros and Straub, Volker and Manzur, Adnan Y and Roper, Helen and Jeannet, Pierre-Yves and Rakowicz, Wojtek and Jones, David Hilton and Jensen, Uffe Birk and Elizabethwraige, Elizabethwraige and Trump, Natalie and Schara, Ulrike and Lochmuller, Hanns and Sarkozy, Anna and Kingston, Helen and Norwood, Fiona and Damian, Maxwell and Kirschner, Janbernd and Longman, Cheryl and Roberts, Mark and Auer-Grumbach, Michaela and Hughes, Imelda and Bushby, Kate and Sewry, Caroline and Robb, Stephanie and Abbs, Stephen and Jungbluth, Heinz and Muntoni, Francesco
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological... 
Core myopathies | Congenital myopathy | Ryr1 | Genotype | Phenotype | RYR1 | phenotype | MULTI-MINICORE DISEASE | core myopathies | genotype | SKELETAL-MUSCLE | KING-DENBOROUGH-SYNDROME | CONGENITAL NEUROMUSCULAR DISEASE | UNIFORM TYPE-1 FIBER | RECESSIVE RYR1 MUTATIONS | MALIGNANT HYPERTHERMIA SUSCEPTIBILITY | GENETICS & HEREDITY | TERMINAL TRANSMEMBRANE REGION | COMMON-CAUSE | congenital myopathy | CENTRAL CORE DISEASE | Humans | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Genes, Recessive | Genes, Dominant | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Female | Mutation | Child | Infant, Newborn | Index Medicus
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11. Full Text Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
by Pfeffer, Gerald and Barresi, Rita and Wilson, Ian J and Hardy, Steven A and Griffin, Helen and Hudson, Judith and Elliott, Hannah R and Ramesh, Aravind V and