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The application of clinical genetics, ISSN 1178-704X, 2014, Volume 7, p. 133
The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a... 
Journal Article
Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. 1387 - 1398
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 393 - 399
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 12/2006, Volume 174, Issue 11, pp. 1211 - 1220
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2012, Volume 109, Issue 28, pp. 11324 - 11329
Journal Article
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 03/2019, Volume 54, Issue 3, pp. 264 - 272
ObjectivesIn the national newborn screening programme for CF in Switzerland, we compared the performance of two sweat test methods, by investigating the... 
chloride measurement | conductivity | sweat test | newborn screening | cystic fibrosis | MANAGEMENT | MACRODUCT | PERFORMANCE | CHILDREN | ANALYZER | SCREEN | RESPIRATORY SYSTEM | INFANTS | PEDIATRICS | EVIDENCE-BASED GUIDELINES | Infants (Newborn) | Gene mutations | Testing equipment | Cystic fibrosis | Diagnosis | Comparative analysis | Electric properties | Medical screening
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 05/2016, Volume 27, Issue 5, pp. 1544 - 1554
Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA). We previously identified a... 
Urine | Recurrence | Vacuolar Proton-Translocating ATPases - genetics | Humans | Middle Aged | Adult | Female | Male | Kidney Calculi - metabolism | Kidney Calculi - genetics | Hydrogen-Ion Concentration | Polymorphism, Genetic | Index Medicus | human genetics | Clinical Research | renal tubular acidosis | kidney stones
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 10/2014, Volume 98, Issue 10, pp. 1453 - 1459
Background/aim To investigate the underlying pathomechanism in a 33-year-old female Caucasian patient presenting with chronic progressive external... 
Eye | Care and treatment | Phenotype | Oculomotor paralysis | RNA | Oxidative phosphorylation | Analysis | Diagnosis | Paralysis | Health aspects | Pathology | Musculoskeletal system | Genotype & phenotype | Load | Neuromuscular diseases | Lasers | Cardiomyopathy | Genes | Ataxia | Mitochondrial DNA | Mutation | Kinases
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 02/2017, Volume 18, Issue 1, pp. 22 - 22
Background: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA... 
Optic neuropathies | Splice site mutation | Autosomal dominant optic atrophy | OPA1 | Kjer type optic atrophy | KJER TYPE | CLINICAL-FEATURES | MIDDLE DOMAIN | LOCUS | CHROMOSOME 3Q REGION | DOMINANT OPTIC ATROPHY | DISEASE | GENETICS & HEREDITY | LINKAGE ANALYSIS | GTPASE | DYNAMIN-RELATED PROTEIN | Index Medicus
Journal Article
Annals of the American Thoracic Society, ISSN 2325-6621, 02/2018, Volume 15, Issue 2, pp. 209 - 216
Journal Article