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RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature

Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; More

Clinical Dysmorphology. 26(4):195-199, October 2017.

Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; More

Clinical Dysmorphology. 27(2):49-52, April 2018.

Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype

Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; More

Clinical Dysmorphology. 31(2):74-78, April 2022.

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; More

Clinical Dysmorphology. 31(2):66-70, April 2022.

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; More

Clinical Dysmorphology. 30(2):76-82, April 2021.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; More

Clinical Dysmorphology. 26(2):83-90, April 2017.

Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings

Vianna, Fernanda S.L.; Schüler-Faccini, Lavínia; Leite, Julio César L.; More

Clinical Dysmorphology. 22(2):59-63, April 2013.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation

Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; More

Clinical Dysmorphology. 31(1):11-17, January 2022.