Results 131 to 140 of about 803,794 (307)

A case of acute lymphoblastic leukemia mimicking juvenile idiopathic arthritis

, 2018
Ferhat Demir
openalex   +1 more source

Phenotypes of juvenile idiopathic arthritis [PDF]

, 2014
Faina Rokhlina, Г. А. Новик
openalex   +1 more source

Idiopathic rhabdomyolysis [PDF]

Archives of Disease in Childhood, 1971
D C, Savage, M, Forbes, G W, Pearce
openaire   +2 more sources

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Acquired idiopathic generalized anhidrosis

, 2014
Uwe Wollina
openalex   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Idiopathic Encapsulating Peritoneal Sclerosis Mimicking Acute Appendicitis: A Case Report and Systematic Literature Review. [PDF]

Am J Case Rep
Martzivanou EC, Atmatzidis S, Voloudakis N, Tsompanis D, Papadopoulou E, Kiroplastis K, Raptis D, Koutelidakis I, Chatzimavroudis G, Papaziogas T, Papaziogas B.   +10 more
europepmc   +1 more source

Outcomes from conservative treatment of shoulder idiopathic adhesive capsulitis and factors associated with developing contralateral disease [PDF]

, 2018
Brophy, Robert H, Lamplot, Joseph D, Lillegraven, Olivia   +2 more
core   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Idiopathic vulvodynia - a psychosomatic disease? A cross-sectional single-center study. [PDF]

BMC Womens Health
Fierz R, Betschart C, Berger V, Ghisu GP, Leeners B.   +4 more
europepmc   +1 more source