Kok, Fernando

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

Varela, M., Kok, F., Setian, N., Kim, C., & Koiffmann, C. (2005) · Clinical Genetics

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

Cited by 117

Mutational analysis of patients with X-linked adrenoleukodystrophy

Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 103

Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly

Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., et al. (2005) · Clinical Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 55

Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint

Valente, K. D., Varela, M. C., Koiffmann, C. P., Andrade, J. Q., Grossmann, R., Kok, F., & Marques-Dias, M. J. (2013) · Epilepsy Research

Genetic Syndromes and ImprintingEpilepsy research and treatment

Cited by 35

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

Bayam, E., Tilly, P., Collins, S. C., Rivera Alvarez, J., Kannan, M., Tonneau, L., Brivio, E., Rinaldi, B., Lecat, R., Schwaller, N., et al. (2025) · EMBO Molecular Medicine

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 2

Expression of ALDP Is Altered in X‐linked Adrenoleukodystrophy

WATKINS, P. A., GOULD, S. J., SMITH, M. A., BRAITERMAN, L. T., WEI, H., KOK, F., MOSER, A. B., MOSER, H. W., & SMITH, K. D. (1996) · Annals of the New York Academy of Sciences

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 1