Most Popular Articles : Clinical Dysmorphology

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Most Popular Articles

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.

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.

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.

Cantu syndrome and lymphoedema

García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I.; More

Clinical Dysmorphology. 20(1):32-37, January 2011.

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More

Clinical Dysmorphology. 25(4):135-145, October 2016.