Results 161 to 170 of about 187,613 (226)

Clinical, biological and cytometric characteristics of two patients with a homozygous A91V<i>PRF1</i> mutation. [PDF]

Clin Transl Immunology
Perrard N, Poggi C, Sanges S, Lemarchant B, Chahlah WA, Terriou L, Delangue S, Trauet J, Labalette M, Hachulla E, Moshous D, Lefevre G, Launay D.   +12 more
europepmc   +1 more source

Autonomic Painful Diabetic Gastropathy Presenting As Recurrent Episodic Abdominal Pain in a Young Man With Type 1 Diabetes: A Case Report. [PDF]

Cureus
Sirivela SS, Yusuf N, Mandaty NA, Kulirankal KG, Moni M.   +4 more
europepmc   +1 more source

Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report. [PDF]

BMC Neurol
Zang P, Liu Y, Hao Y.
europepmc   +1 more source

Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review. [PDF]

J Neurol
Elgenidi A, Shir D, Piura YD, Sokol LL, Duara R, Lachner C, Day GS.   +6 more
europepmc   +1 more source

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists. [PDF]

J Med Genet
Aul RB, Canales KE, De Bie I, Laberge AM, Langlois S, Nelson TN, Walji S, Yu AC, Lazier J, Canadian College of Medical Geneticists, Canadian College of Medical Geneticists .   +10 more
europepmc   +1 more source

Yao syndrome: Report of 3 cases with a family history. [PDF]

JAAD Case Rep
Rezhan M, Foulke GT, Helm MF.
europepmc   +1 more source

Epidemiology of autonomic dysfunction in Parkinson's disease (Review). [PDF]

Med Int (Lond)
Rissardo JP, Gadelmawla AF, Khalil I, Abdulgadir A, Bhatti KS, Fornari Caprara AL.   +5 more
europepmc   +1 more source

Motor neuron disease can present as a paraneoplastic neurologic syndrome with various phenotypes. [PDF]

Brain Commun
Koropouli E, Bellos S, Aristeidou S, Daponte A, Gklinos P, Athanasopoulos F, Tsionis A, Andreadou E, Zouvelou V, Rentzos M.   +9 more
europepmc   +1 more source