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Nature Communications, ISSN 2041-1723, 06/2017, Volume 8, Issue 1, p. 15824
Across a variety of Mendelian disorders, similar to 50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing... 
PERRAULT SYNDROME | COMPLEX | SNP | METABOLISM | RANDOM MONOALLELIC EXPRESSION | ORNITHINE | MULTIDISCIPLINARY SCIENCES | DOMINANT | MUTATIONS | ASSOCIATION | TOOL
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2010, Volume 120, Issue 3, pp. 791 - 802
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 11, pp. 2521 - 2531
Skeletal muscle growth and regeneration rely on muscle stem cells, called satellite cells. Specific transcription factors, particularly PAX7, are key... 
myoblasts | skeletal muscle | myopathy | PAX7 | muscle stem cell
Journal Article
by Maas, Roeltje R and Iwanicka‐Pronicka, Katarzyna and Kalkan Ucar, Sema and Alhaddad, Bader and AlSayed, Moeenaldeen and Al‐Owain, Mohammed A and Al‐Zaidan, Hamad I and Balasubramaniam, Shanti and Barić, Ivo and Bubshait, Dalal K and Burlina, Alberto and Christodoulou, John and Chung, Wendy K and Colombo, Roberto and Darin, Niklas and Freisinger, Peter and Garcia Silva, Maria Teresa and Grunewald, Stephanie and Haack, Tobias B and van Hasselt, Peter M and Hikmat, Omar and Hörster, Friederike and Isohanni, Pirjo and Ramzan, Khushnooda and Kovacs‐Nagy, Reka and Krumina, Zita and Martin‐Hernandez, Elena and Mayr, Johannes A and McClean, Patricia and De Meirleir, Linda and Naess, Karin and Ngu, Lock H and Pajdowska, Magdalena and Rahman, Shamima and Riordan, Gillian and Riley, Lisa and Roeben, Benjamin and Rutsch, Frank and Santer, Rene and Schiff, Manuel and Seders, Martine and Sequeira, Silvia and Sperl, Wolfgang and Staufner, Christian and Synofzik, Matthis and Taylor, Robert W and Trubicka, Joanna and Tsiakas, Konstantinos and Unal, Ozlem and Wassmer, Evangeline and Wedatilake, Yehani and Wolff, Toni and Prokisch, Holger and Morava, Eva and Pronicka, Ewa and Wevers, Ron A and de Brouwer, Arjan P and Wortmann, Saskia B and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 1004 - 1015
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
ENCEPHALOPATHY | MEGDEL SYNDROME | MANAGEMENT | GENE | BIOSYNTHESIS | PHENOTYPE | MITOCHONDRIAL DYSFUNCTION | PHOSPHOLIPIDS | 3-METHYLGLUTACONIC ACIDURIA | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | Dystonia - therapy | Humans | Child, Preschool | Infant | Male | Intellectual Disability - genetics | Dystonia - genetics | Young Adult | Adult | Female | Carboxylic Ester Hydrolases - genetics | Deaf-Blind Disorders - therapy | Child | Infant, Newborn | Optic Atrophy - genetics | Amino Acid Sequence | Intellectual Disability - diagnostic imaging | Deaf-Blind Disorders - diagnostic imaging | Mutation - genetics | Disease Progression | Intellectual Disability - therapy | Optic Atrophy - therapy | Adolescent | Deaf-Blind Disorders - genetics | Dystonia - diagnostic imaging | Optic Atrophy - diagnostic imaging | Cohort Studies | Neonates | Cochlear implants | Deafness | Basal ganglia | Liver diseases | Liver | Aciduria | Spasticity | Hypoglycemia | Ganglia | Hearing loss | Hypotonia | Magnetic resonance imaging | Encephalopathy | Implants | Cochlea | Hearing aids | Leigh-like syndrome | Dystonia | Mutation | Auditory defects | Saliva | Age | lactic acid | epilepsy | 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome | basal ganglion | nuclear magnetic resonance imaging | Carboxylic Ester Hydrolases | major clinical study | hearing impairment | young adult | infant | muscle biopsy | aciduria | dyskinesia | 3 methylglutaconic acid | liver failure | putamen | lactate blood level | Optic Atrophy | female | optic nerve atrophy | tongue disease | clinical trial | Neurologi | neuroradiology | liver disease | gene | preschool child | survival | diagnostic imaging | intelligence | neuroimaging | Neurology | mutation | speech development | adolescent | multicenter study | perception deafness | adult | serac1 gene | Deaf-Blind Disorders | male | child | deafblindness | Leigh disease | cohort analysis | Article | hypersalivation | communication skill | SERAC1 protein | genetics | amino acid sequence | walking | hypoglycemia | visual impairment | priority journal | human | Intellectual Disability | phenotype | disease exacerbation | differential diagnosis | human tissue | disease course | gene mutation | carboxylesterase | lactic acidosis | Preschool | brain disease | newborn | intellectual impairment | muscle hypotonia | prognosis | clinical feature | genetic variability | liver dysfunction | dystonia | newborn disease | spasticity | incidence
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2016, Volume 39, Issue 1, pp. 3 - 16
Journal Article
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2016, Volume 39, Issue 3, pp. 341 - 353
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2016, Volume 53, Issue 4, pp. 270 - 278
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 61 - 68
Journal Article