Results 201 to 210 of about 88,012 (270)

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. [PDF]

Meta Gene, 2014
Varvagiannis K, Papoulidis I, Koromila T, Kefalas K, Ziegler M, Liehr T, Petersen MB, Gyftodimou Y, Manolakos E.   +8 more
europepmc   +1 more source

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review. [PDF]

BMC Neurol, 2016
Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P.   +6 more
europepmc   +1 more source

EMG findings in the course of vidarabine neuropathy [PDF]

, 1988
Berlit, Peter, Brosi, K., Krause, Klaus-Henning, Scheglmann, K.   +3 more
core  

H/M-ratio in spasticity before and after therapy with vibration impulses [PDF]

, 1988
Krause, Klaus-Henning, Kummer, R. von, Morche, K.   +2 more
core  

Bidirectional Relations Between Daily Perceived Stress and Individual Symptoms of Depression. [PDF]

Stress Health
Quinn ME, Liu Q.
europepmc   +1 more source

Principles of whole organ transplantation [PDF]

, 1984
Iwatsuki, S, Shaw, BW, Starzl, TE
core  

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes. [PDF]

BMC Med Genomics
Wang M, Ji Y, Xu Y, Sun S, Yang X, Sun L, Wu Q.   +6 more
europepmc   +1 more source

Genetic Syndromes Including Intellectual Disability and Different Cancer Types. [PDF]

Mol Syndromol
Ünsel-Bolat G, Dutar E, Bolat H.
europepmc   +1 more source