Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy von Kim, C. A., Delépine, Marc, Boutet, Emilie, El Mourabit, Haquima, Le Lay, Soazig, Meier, Muriel, Nemani, Mona, Bridel, Etienne, Leite, Claudia C., Bertola, Debora R., Semple, Robert K., O’Rahilly, Stephen, Dugail, Isabelle, Capeau, Jacqueline, Lathrop, Mark, Magré, Jocelyne

Volltext

Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome von Jain, A., Shafer, L., Rothenmund, H., Kim, C. A., Samadder, J., Gupta, S., Singh, H.

Volltext

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population von Mathijssen, Inge B, Holtkamp, Kim C A, Ottenheim, Cecile P E, van Eeten-Nijman, Janneke M C, Lakeman, Phillis, Meijers-Heijboer, Hanne, van Maarle, Merel C, Henneman, Lidewij

Volltext

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape von Holtkamp, Kim C A, Vos, Evelien M, Rigter, Tessel, Lakeman, Phillis, Henneman, Lidewij, Cornel, Martina C

Volltext

Genomic imbalances associated with müllerian aplasia von Cheroki, C, Krepischi-Santos, A C V, Szuhai, K, Brenner, V, Kim, C A E, Otto, P A, Rosenberg, C

Volltext

Cardiac Markers of EIH Athletes in Ultramarathon von Kim, Y.-J., Kim, C.-H., Shin, K.-A., Kim, A.-C., Lee, Y.-H., Goh, C.-W., Oh, J.-K., Nam, H.-S., Park, Y.

Volltext

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients von Varela, MC, Kok, F, Setian, N, Kim, CA, Koiffmann, CP

Volltext

Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression von Kim, Chongwoo A., Phillips, Martin L., Kim, Woojae, Gingery, Mari, Tran, Hoang H., Robinson, Michael A., Faham, Salem, Bowie, James U.

Volltext

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause von Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.

Volltext

Surgical wound infection, tuboovarian abscess, and sepsis caused by Edwardsiella tarda: case reports and literature review von Golub, V, Kim, A. C, Krol, V

Volltext

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability von Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

Volltext

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? von Bertola, DR, Pereira, AC, Brasil, AS, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, AB, Janowski, KM, Kim, CA, Messiaen, LM

Volltext

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum von Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

Volltext

Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene von Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

Volltext

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy von Gonzalez, Claudette Hajaj, Marques-Dias, Maria Joaquina, Kim, Chong Ae, Sugayama, Sofia MM, Da Paz, José Albino, Huson, Susan M, Holmes, Lewis B

Volltext

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening von van Schendel, Rachèl V, Kleinveld, Johanna H, Dondorp, Wybo J, Pajkrt, Eva, Timmermans, Danielle R M, Holtkamp, Kim C A, Karsten, Margreet, Vlietstra, Anne L, Lachmeijer, Augusta M A, Henneman, Lidewij

Volltext

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives von Holtkamp, Kim C A, Mathijssen, Inge B, Lakeman, Phillis, van Maarle, Merel C, Dondorp, Wybo J, Henneman, Lidewij, Cornel, Martina C

Volltext

Synthesis and electrorheological characteristics of microencapsulated polyaniline particles with melamine–formaldehyde resins von Lee, Y.H, Kim, C.A, Jang, W.H, Choi, H.J, Jhon, M.S

Volltext

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiple... von Jehee, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D’Angelo, C S, Mazzeu, J F, Froyen, G, Lugtenberg, D, Vianna-Morgante, A M, Rosenberg, C, Passos-Bueno, M R

Volltext

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations von Krepischi-Santos, A.C.V., Vianna-Morgante, A.M., Jehee, F.S., Passos-Bueno, M.R., Knijnenburg, J., Szuhai, K., Sloos, W., Mazzeu, J.F., Kok, F., Cheroki, C., Otto, P.A., Mingroni-Netto, R.C., Varela, M., Koiffmann, C., Kim, C.A., Bertola, D.R., Pearson, P.L., Rosenberg, C.

Volltext