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by Shashi, Vandana and Geist, Janelle and Lee, Youngha and Yoo, Yongjin and Shin, Unbeom and Schoch, Kelly and Sullivan, Jennifer and Stong, Nicholas and Smith, Edward and Jasien, Joan and Kranz, Peter and Lee, Yoonsung and Shin, Yong Beom and Wright, Nathan T and Choi, Murim and Kontrogianni‐Konstantopoulos, Aikaterini and Acosta, Maria T and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao‐Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Friedman, Noah D and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean‐Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Frances and Holm, Ingrid A and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1115 - 1126
Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The... 
arthrogryposis | tremor | MYBPC1 | myosin binding protein‐C | myopathy | hypotonia | BINDING-PROTEIN-C | DIFFERENTIAL EXPRESSION | myosin binding protein-C | GENETICS | SLOW | GENETICS & HEREDITY | MUTATIONS | Wildlife conservation | Analysis | Myosin | Muscles | Genetic aspects | Muscle proteins | Protein binding | Musculoskeletal system | Phenotypes | Actomyosin | Tremor | Arthrogryposis | Muscle contraction | Skeletal muscle | Myopathy
Journal Article
Postgraduate Medical Journal, ISSN 0032-5473, 10/2019, Volume 95, Issue 1128, pp. 569 - 572
It is well recognised that medical training globally and at all levels lacks sufficient incorporation of genetics and genomics education to keep up with the... 
CURRICULUM | MEDICINE, GENERAL & INTERNAL | genetics | education & training (see medical education & training) | medical education & training | internal medicine | general medicine (see internal medicine)
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Science, ISSN 0036-8075, 10/2010, Volume 330, Issue 6002, pp. 336 - 336
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 526 - 533
Niemann–Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either... 
Quantitative chemical shift imaging | Chitotriosidase | Pulmonary disease | Niemann–Pick disease type B | Acid sphingomyelinase (ASM) deficiency | Enzyme replacement therapy | Niemann-Pick disease type B | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | DISORDERS | PREVALENCE | GAUCHER-DISEASE | INTERMEDIATE PHENOTYPE | NIEMANN-PICK-DISEASE | GENETICS & HEREDITY | MUTATIONS | Hepatomegaly - pathology | Sphingomyelin Phosphodiesterase - genetics | Prospective Studies | Humans | Middle Aged | Niemann-Pick Disease, Type A - physiopathology | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Niemann-Pick Disease, Type B - genetics | Splenomegaly - pathology | Netherlands | Sphingomyelin Phosphodiesterase - metabolism | Adult | Female | Retrospective Studies | Niemann-Pick Disease, Type A - genetics | Child | Severity of Illness Index | Lung - pathology | Niemann-Pick Disease, Type B - physiopathology | Niemann-Pick Disease, Type A - enzymology | Niemann-Pick Disease, Type B - enzymology | Biomarkers - analysis | Belgium | Adolescent | Mutation | Respiratory Function Tests | Enzymes | Study and teaching | Respiratory tract diseases | Nervous system diseases | Blood cholesterol | Neurological diseases | lysosomal storage diseases | Children | Sphingomyelin phosphodiesterase
Journal Article
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Pinto E Vairo, Filippo and Pichurin, Pavel N and Ewing, Sarah A and Barnett, Sarah S and Klee, Eric W and Perry, M Scott and Koenig, Mary Kay and Keegan, Catherine E and Schuette, Jane L and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D and Rosenfeld, Jill A and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E and Steeves, Marcie A and Hollander, Nicolette den and Hoffer, Mariëtte J V and Reijnders, Margot R F and Demirdas, Serwet and Koboldt, Daniel C and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E and Shieh, Christine and Sanchez-Lara, Pedro A and Graham, Jr, John M and Tezcan, Kamer and Schaefer, G B and Danylchuk, Noelle R and Asamoah, Alexander and Jackson, Kelly E and Yachelevich, Naomi and Au, Margaret and Pérez-Jurado, Luis A and Kleefstra, Tjitske and Penzes, Peter and ... and Undiagnosed Diseases Network
Biological psychiatry, ISSN 0006-3223, 06/2019
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X... 
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 797 - U231
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2018, Volume 41, Issue 4, pp. 583 - 584
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-018-0215-y 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | MITOCHONDRIAL DISORDERS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Physiological aspects | Molecular biology | Nervous system diseases | Mental disorders
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2017, Volume 40, Issue 1, pp. 1 - 2
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-016-9998-x 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Methylation
Journal Article