Results 131 to 140 of about 9,359 (213)

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum. [PDF]

Front Endocrinol (Lausanne)
Magno S, Pelosini C, Paoli M, Gilio D, Palladino L, Menconi F, Barison A, Todiere G, Ortori S, Coco B, Paolucci G, Salvetti G, Sessa MR, Ceccarini G, Santini F.   +14 more
europepmc   +1 more source

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome. [PDF]

Transl Pediatr
Wu Z, Yin X, Li X, Mei H, Li J, Huang Z, Cheng J, Yi P, Zhang W, Xu A.   +9 more
europepmc   +1 more source

Two Infants with Beckwith-Wiedemann Syndrome

Balkan Journal of Medical Genetics, 2010
Ratbi I, Elalaoui S, Sefiani A
doaj   +1 more source

Analysis on the plane and mechanism of tongue-originated obstruction in Obstructive Sleep Apnea Syndrome (OSAS) patients with macroglossia. [PDF]

Braz J Otorhinolaryngol
Huang M, Chen G.
europepmc   +1 more source

Rare Oral Manifestations of Systemic Amyloidosis: A Case Report. [PDF]

Case Rep Hematol
Barazanji S, Herrera JG, Garming-Legert K.   +2 more
europepmc   +1 more source

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement. [PDF]

Clin Case Rep
Świeca A, Rydzanicz M, Ploski R, Szczałuba K.   +3 more
europepmc   +1 more source

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

Lymphangiomatous macroglossia [PDF]

American Journal of Orthodontics and Oral Surgery, 1944
John W Kemper, Herbert J Bloom
openaire   +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

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