Erratum: In the article by Gene S. Fisch, entitled "Nosology and Epidemiology in Autism: Classification Counts," in. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C:91-103 10.1002/ajmg.c.31325 (2012) von Fisch, Gene S.

Volltext

Tenascin-X, Collagen, Elastin and the Ehlers-Danlos Syndrome von Bristow, James, Carey, William, Schalkwijk, Joost

Volltext

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita von Dahan-Oliel, N, Cachecho, S, Barnes, D, Bedard, T, Davison, AM, Dieterich, K, Donohoe, M, Fafara, A, Hamdy, R, Hjartarson, HT, Hoffman, NS, Kimber, E, Komolkin, I, Lester, R, Ponten, E, van Bosse, HJP, Hall, JG

Volltext

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism von Vandeweyer, G, Helsmoortel, C, Van Dijck, A, Vulto-van Silfhout, AT, Coe, BP, Bernier, R, Gerdts, J, Rooms, L, van den Ende, J, Bakshi, M, Wilson, M, Nordgren, A, Hendon, LG, Abdulrahman, OA, Romano, C, De Vries, BBA, Kleefstra, T, Eichler, EE, Van der Aa, N, Kooy, RF

Volltext

47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management von Aksglaede, Lise, Link, Katarina, Giwercman, Aleksander, Jorgensen, Niels, Skakkebaek, Niels E., Juul, Anders

Volltext

Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome von Fjermestad, Krister, Huster, Rene, Thunberg, Christina, Stokke, Simen, Gravholt, Claus H, Solbakk, Anne-Kristin

Volltext

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome von Prakash, SK, San Roman, AK, Crenshaw, M, Flink, B, Earle, K, Los, E, Bonnard, A, Lin, AE

Volltext

Whole-genome sequencing holds the key to the success of gene-targeted therapies von Vockley, J., Aartsma-Rus, A., Cohen, J.L., Cowsert, L.M., Howell, R.R., Yu, T.W., Wasserstein, M.P., Defay, T.

Volltext bestellen

Observations on intelligence and behavior in 15 patients with Legius syndrome von Denayer, Ellen, Descheemaeker, Mie-Jef, Stewart, Douglas R, Keymolen, Kathelijn, Plasschaert, Ellen, Ruppert, Sarah L, Snow, Joseph, Thurm, Audrey E, Joseph, Lisa A, Fryns, Jean-Pierre, Legius, Eric

Volltext

Attitudes regarding predictive genetic testing in minors: A survey of European clinical geneticists von Borry, Pascal, Goffin, Tom, Nys, Herman, Dierickx, Kris

Volltext

Biallelic variants in CENPF causing a phenotype distinct from Stromme syndrome von Cappuccio, G., Brillante, S., Tammaro, R., Pinelli, M., Bernardi, M.L. de, Gensini, M.G., Bijlsma, E.K., Koopmann, T.T., Hoffer, M.J.V., McDonald, K., Hendon, L.G., Douzgou, S., Deshpande, C., D'Arrigo, S., Torella, A., Nigro, V., Franco, B., Brunetti-Pierri, N.

Volltext bestellen

The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY) von Urbanus, E., Swaab, J.T., Tartaglia, N., Cordeiro, L., Rijn, S. van

Volltext bestellen

Guidelines in CHARGE syndrome and the missing link: Cranial imaging von Geus, C.M. de, Free, R.H., Verbist, B.M., Sival, D.A., Blake, K.D., Meiners, L.C., Ravenswaaij-Arts, C.M.A. van

Volltext bestellen

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders von Mu, Weiyi, Muriello, Michael, Clemens, Julia L., Wang, You, Smith, Christy H., Tran, Phuong T., Rowe, Peter C., Francomano, Clair A., Kline, Antonie D., Bodurtha, Joann

Volltext

Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome von Jones, Jordan T., Black, William R., Cogan, Wendy, Callen, Elisabeth

Volltext

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review von McGillis, Laura, Mittal, Nimish, Santa Mina, Daniel, So, Joyce, Soowamber, Medha, Weinrib, Aliza, Soever, Leslie, Rozenberg, Dmitry, Liu, Louis, Tse, Yvonne, Katz, Joel, Charames, George S, Murphy, Kieran, Vadas, Peter, Slepian, Maxwell P, Walsh, Scott, Wilson, Lindsay, Adler, Arnon, Franzese, Alyssa, Hussey, Laura, Nevay, Dayna‐Lynn, Guzman, Juan, Clarke, Hance

Volltext

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India von Moirangthem, Amita, Mandal, Kausik, Saxena, Deepti, Srivastava, Priyanka, Gambhir, Poonam Singh, Agrawal, Neha, Shambhavi, Arya, Nampoothiri, Sheela, Phadke, Shubha R.

Volltext

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelin... von Pezaro, Sally, Brock, Isabelle, Buckley, Maggie, Callaway, Sarahann, Demirdas, Serwet, Hakim, Alan, Harris, Cheryl, High Gross, Carole, Karanfil, Megan, Le Ray, Isabelle, McGillis, Laura, Nasar, Bonnie, Russo, Melissa, Ryan, Lorna, Blagowidow, Natalie

Volltext

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report von Herlin, Laura Krogh, Herlin, Morten Krogh, Vinter, Hanne, Blechingberg, Jenny, Andersen, Brian Nauheimer, Kruse, Casper, Sommerlund, Mette

Volltext

Epidemiological characteristics of holoprosencephaly in China, 2007-2014: A retrospective study based on the national birth defects surveillance system von Yi, Ling, Liu, Zhongqiang, Deng, Changfei, Li, Xiaohong, Wang, Ke, Deng, Kui, Mu, Yi, Zhu, Jun, Li, Qi, Wang, Yanping, Dai, Li

Volltext