Results 81 to 90 of about 5,413 (169)

A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum. [PDF]

BMC Med Genomics
Wu S, Zhang Y, Zhang H, Yan X, Pi Y.
europepmc   +1 more source

Rheumatological Manifestations of Systemic Amyloidosis: A Retrospective Single-Centre Study From a Tertiary Care Hospital in India. [PDF]

Cureus
Gopal M, George N A, Kamath N, Thomas KN, Goel R, Mathew J.   +5 more
europepmc   +1 more source

Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings. [PDF]

Clin Case Rep
Guglielmi F, Alessandri Bonetti A, Nuzzo B, Gallenzi P.   +3 more
europepmc   +1 more source

Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemi Hyperplasia at Sultan Qaboos University Hospital with Their Surveillance Outcomes. [PDF]

Oman Med J
Zakaria WNA.
europepmc   +1 more source

Neurofibromatosis presenting as Macroglossia [PDF]

Archives of Disease in Childhood, 1951
J J, KEMPTON, C, LATTO
openaire   +2 more sources

Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant. [PDF]

Prenat Diagn
Crane HM, Giardine R, Strong A, Wild KT, Zackai E, Dugoff L, Sparks TN, Coleman B, Moldenhauer JS.   +8 more
europepmc   +1 more source

Macroglossia Caused by Venous Congestion in a Patient With Amyotrophic Lateral Sclerosis. [PDF]

Clin Case Rep
Hino S, Iijima Y, Nakayama N, Horie N, Kaneko T.   +4 more
europepmc   +1 more source

Dermatological Manifestations of Amyloid Light-Chain (AL) Amyloidosis: A Case Report Highlighting Early Diagnosis and Treatment. [PDF]

Cureus
Gill SS, Kamboj T.
europepmc   +1 more source

Anesthetic Management of a Patient With Myhre Syndrome. [PDF]

Anesth Prog
Morita Y, Kudo C, Nakagawa H, Mihara K, Watanabe T, Niwa H.   +5 more
europepmc   +1 more source

Macroglossia [PDF]

, 2020
openaire   +1 more source