C.A. Kim

发表

Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients

N. Setian, M. Varela, C. Koiffmann, 2004, Clinical Genetics.

Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy

M. I. Melaragno, A. B. Alvarez Perez, C.A. Kim, 2012, Cytogenetic and Genome Research.

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

J. Mazzeu, A. Vianna-Morgante, P. Otto, 2010, Molecular Syndromology.

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

K. Grzeschik, R. Happle, C. Kim, 2005, Dermatology.

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

J. Kitajima, E. van Meel, S. Kornfeld, 2014, Molecular genetics and metabolism reports.

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

W. Sloos, M. Passos-Bueno, P. Pearson, 2006, Cytogenetic and Genome Research.

Chromosome imbalances in syndromic hearing loss

J. Mazzeu, A. Vianna-Morgante, C. Rosenberg, 2009, Clinical genetics.

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

D. Bertola, R. Falzoni, U. Tannuri, 2012, Clinical genetics.

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

F. Escande, J. Amiel, M. Delrue, 2014, Clinical genetics.

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

D. Bertola, L. Albano, R. Honjo, 2009, American journal of medical genetics. Part A.