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Clinical Dysmorphology|October 1, 1994
Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation: a new syndrome?S A Lynch, S G Lee, V A MurdayClinical Dysmorphology|October 1, 1994
Isolated macrodactyly or extremely localized Proteus syndrome?Y van Bever, R C HennekamClinical Dysmorphology|October 1, 1994
Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS)A J Barnicoat, M J Seller, C P BennettClinical Dysmorphology|February 27, 2024
The likelihood of detecting abnormal karyotypes in fetuses with a single major anomaly or "soft" marker on ultrasonographic scanningBojana Petrovic, Srboljub Milicevic, Dragisa Sljivancanin, et al.Clinical Dysmorphology|October 22, 2023
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screeningThurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, et al.Clinical Dysmorphology|August 29, 2020
Clinical and genetic characterization of congenital lipoid adrenal hyperplasiaAsmat Ullah, Farah Bibi, Nighat Haider, et al.Clinical Dysmorphology|November 2, 2020
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorumMahmoud Almutadares, Jane Evans, Elizabeth Sellers, et al.Clinical Dysmorphology|August 5, 2017
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literatureDanielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, et al.Clinical Dysmorphology|December 5, 2015
Severe constipation in a patient with Myhre syndrome: a case reportJohn K Bassett, Sofia Douzgou, Bronwyn KerrClinical Dysmorphology|February 13, 2016
A rare example of germ-line chromothripsis resulting in large genomic imbalanceSarah E Anderson, Arveen Kamath, Daniela T Pilz, et al.Pageof 117