Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
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
Published in The journal of clinical endocrinology and metabolism (01.04.2008)
Published in The journal of clinical endocrinology and metabolism (01.04.2008)
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Journal Article
Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome
Jain, A., Shafer, L., Rothenmund, H., Kim, C. A., Samadder, J., Gupta, S., Singh, H.
Published in Digestive diseases and sciences (01.12.2019)
Published in Digestive diseases and sciences (01.12.2019)
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Journal Article
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population
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
Published in European journal of human genetics : EJHG (01.02.2018)
Published in European journal of human genetics : EJHG (01.02.2018)
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Journal Article
Genomic imbalances associated with müllerian aplasia
Cheroki, C, Krepischi-Santos, A C V, Szuhai, K, Brenner, V, Kim, C A E, Otto, P A, Rosenberg, C
Published in Journal of medical genetics (01.04.2008)
Published in Journal of medical genetics (01.04.2008)
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Journal Article
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
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.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
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Journal Article
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
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.
Published in Scientific reports (06.09.2018)
Published in Scientific reports (06.09.2018)
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Journal Article
Cardiac markers of EIH athletes in ultramarathon
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
Published in International journal of sports medicine (01.03.2012)
Published in International journal of sports medicine (01.03.2012)
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Journal Article
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
Bertola, DR, Pereira, AC, Brasil, AS, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, AB, Janowski, KM, Kim, CA, Messiaen, LM
Published in Clinical genetics (01.06.2012)
Published in Clinical genetics (01.06.2012)
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Journal Article
Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum
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.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
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Journal Article
Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
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.
Published in Gene (15.07.2013)
Published in Gene (15.07.2013)
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Journal Article
Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy
Gonzalez, Claudette Hajaj, Marques-Dias, Maria Joaquina, Kim, Chong Ae, Sugayama, Sofia MM, Da Paz, José Albino, Huson, Susan M, Holmes, Lewis B
Published in The Lancet (British edition) (30.05.1998)
Published in The Lancet (British edition) (30.05.1998)
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Journal Article
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
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
Published in Journal of medical genetics (01.07.2008)
Published in Journal of medical genetics (01.07.2008)
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Journal Article
Penile anthropometry in systemic lupus erythematosus patients
Vecchi, AP, Borba, EF, Bonfá, E, Cocuzza, M, Pieri, P, Kim, CA, Silva, CA
Published in Lupus (01.04.2011)
Published in Lupus (01.04.2011)
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Journal Article
A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome
Teixeira, M. C. T. V., Emerich, D. R., Orsati, F. T., Rimério, R. C., Gatto, K. R., Chappaz, I. O., Kim, C. A.
Published in Journal of intellectual disability research (01.02.2011)
Published in Journal of intellectual disability research (01.02.2011)
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Journal Article