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Clinical dysmorphology, ISSN 0962-8827, 07/2018, Volume 27, Issue 3, p. 78
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 2018, Volume 27, Issue 3, pp. 78 - 83
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 2014, Volume 158, Issue 5
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 2014, Volume 158, Issue 2, p. A6604
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous skeletal dysplasia. MED is usually inherited as a dominant trait, however, in... 
Phenotype | Osteochondrodysplasias - genetics | Humans | Male | Bone Diseases, Developmental - genetics | Mutation | Osteochondrodysplasias - diagnosis | Bone Diseases, Developmental - diagnosis | Child | Muscle Weakness - genetics | Cartilage Oligomeric Matrix Protein - genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1001 - 1014
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2006, Volume 78, Issue 4, p. 604
The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth... 
Genotype & phenotype | Genetic disorders | Genes | Patients | Deoxyribonucleic acid--DNA | Binding sites
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 12, pp. 4375 - 4387
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 10/2019, Volume 27, Issue 10, pp. 1611 - 1618
The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo... 
CHANNELS | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Transient receptor potential proteins | Channel opening | Phenotypes | Coding | Intellectual disabilities | Epilepsy | Proline | Haploinsufficiency | Brief Communication | Medical genetics
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2016, Volume 170, Issue 12, pp. 3069 - 3082
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 934 - 941
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article