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Clinical Dysmorphology|February 19, 2021
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndromeMio Aerden, Lore Vallaeys, Maureen Holvoet, et al.Clinical Dysmorphology|February 9, 2021
Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletionFernanda S Jehee, Tia Bouma, Arjan BoumanClinical Dysmorphology|February 7, 2017
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndromeZerin Hyder, Victoria Beale, Ruth O'Connor, et al.Clinical Dysmorphology|December 6, 2021
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literatureDhanya Lakshmi Narayanan, Puneeth H Somashekar, Purvi Majethia, et al.Clinical Dysmorphology|March 17, 2005
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe, Emil Simeonov, William Beckett, et al.Clinical Dysmorphology|March 17, 2005
Neonatal Marfan syndrome: clinical report and review of the literatureHenriette Ter Heide, Constance T R M Schrander-Stumpel, Gerard Pals, et al.Clinical Dysmorphology|March 17, 2005
3C syndrome with cryptorchidism and posterior embryotoxonEleftheria Papadopoulou, Stavros Sifakis, Maria Rogalidou, et al.Clinical Dysmorphology|December 17, 2004
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)Massimiliano Rossi, Daniele De Brasi, Christine M Hall, et al.Clinical Dysmorphology|December 17, 2004
Index finger abnormalities in Simpson-Golabi-Behmel syndromeRuth Day, Alan FryerClinical Dysmorphology|December 17, 2004
Focal dermal hypoplasia associated with split sternum--Goltz syndromeJúlio César Loguercio Leite, Renata Faermann, Nina Rodrigues Stein, et al.Pageof 117