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Prenatal Diagnosis|October 22, 2005
MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyriaSicco A Scherjon, Lishya Liauw, Sarina G KantAmerican Journal of Medical Genetics. Part A|May 15, 2015
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?Christina Lissewski, Sarina G Kant, Zornitza Stark, et al.Pediatric Endocrinology Reviews : PER|April 28, 2009
Overgrowth syndromes:from classical to newRemco Visser, Sarina G Kant, Jan M Wit, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 11, 2012
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndromeRoberto J García, Sarina G Kant, Jan M Wit, et al.The Journal of Clinical Endocrinology and Metabolism|February 7, 2008
Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX genePolyzois Makras, Neveen A T Hamdy, Sarina G Kant, et al.The Journal of Clinical Endocrinology and Metabolism|September 15, 2015
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting DefectsBoudewijn Bakker, Laura J H Sonneveld, M Claire Woltering, et al.BMJ Case Reports|October 1, 2017
Phelan-McDermid syndrome due to <i>SHANK3</i> mutation in an intellectually disabled adult male: successful treatment with lithiumJos I M Egger, Willem M A Verhoeven, Renske Groenendijk-Reijenga, et al.American Journal of Medical Genetics. Part A|October 16, 2010
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutationEsther G J Rijntjes-Jacobs, Enrico Lopriore, Sylke J Steggerda, et al.Journal of Pediatric Surgery|May 27, 2021
Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physicianRyan J Billar, Wiem Manoubi, Sarina G Kant, et al.American Journal of Medical Genetics. Part A|November 21, 2012
Phelan-McDermid syndrome: clinical report of a 70-year-old womanWillem M A Verhoeven, Jos I M Egger, Ruthy Cohen-Snuijf, et al.Pageof 8