Results 111 to 120 of about 5,413 (169)

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl. [PDF]

Mol Genet Genomic Med
Dalili S, Hoseini Nouri SA, Sharifi A, Bayat R, Talebi S, Savad S, Medghalchi N, Rabbani B, Mahdieh N.   +8 more
europepmc   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report. [PDF]

Case Rep Genet
Levy E, Elliott L, Miller MA, Kramer M.
europepmc   +1 more source

The Identification of Beckwith-Wiedemann Syndrome Through Swap Disentangled Variational Autoencoder. [PDF]

J Craniofac Surg
Rijlaarsdam T, Smith L, Rickart A, Schievano S, Dunaway D, Wolvius E, van de Lande L, Foti S, Ong J.   +8 more
europepmc   +1 more source

Thoracic petechiae in an adult woman. [PDF]

JAAD Case Rep
Bui F, Hasan N, Morris S, Dyer JM.
europepmc   +1 more source

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association. [PDF]

Ital J Pediatr
Russo S, Milani D, Meossi C, Marcucci L, Pajno R, Butti N, Cocchi G, Tannorella P, Bertoletti M, Carli D, Meazzini MC, Tortora C, Ferrari M, Zampino G, Massuras S, Ferrero GB, Quarello P, Rossetti G, Montirosso R, De Pellegrin M, Riccio A, Mussa A.   +21 more
europepmc   +1 more source

Diseases of the tongue: a review of etiologies and treatments. [PDF]

Maxillofac Plast Reconstr Surg
Jeong YH, Lee H, Ahn KM.
europepmc   +1 more source

Collaboration Between Endocrinologists and Dentists in the Care of Patients with Acromegaly-A Narrative Review. [PDF]

J Clin Med
Wiśniewska B, Piekarski K, Spychała S, Golusińska-Kardach E, Stelmachowska-Banaś M, Wyganowska M.   +5 more
europepmc   +1 more source

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature. [PDF]

Mol Cell Pediatr
El-Mezayen M, Tawfik AM, Hadhoud AM, Gerges VM, Afify MH.   +4 more
europepmc   +1 more source

Anesthetic Considerations in Sturge-Weber Syndrome: A Case Report. [PDF]

Cureus
Kodra N, Escalona K, Hsin P, Rosen G, Tuman J, Perez-Viloria ME.   +5 more
europepmc   +1 more source

Tongue swelling following cleft palate repair: report of a rare case. [PDF]

Int J Surg Case Rep
Siddhant T, Nitesh C, Shrestha B, Chandan U, Mamata S, Dilip R.   +5 more
europepmc   +1 more source