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Mostrando ítems 1-10 de 15

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

White, Janson; Araújo, Juliana Forte Mazzeu de; Hoischen, Alexander; Jhangiani, Shalini N.; Gambin, Tomasz; Alcino, Michele Calijorne; Penney, Samantha; Saraiva, Jorge M.; Hove, Hanne; Skovby, Flemming; Kayserili, Hu¨lya; Estrella, Elicia; Vulto-van Silfhout, Anneke T.; Steehouwer, Marloes; Muzny, Donna M.; Sutton, V. Reid; Gibbs, Richard A.; Lupski, James R.; van Bon, Bregje W.M. (Elsevier Inc., 2016)

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

LEEUW, Nicole de; BULK, Saskia; GREEN, Andrew; JAECKLE-SANTOS, Lane; BAKER, Linda A.; ZINN, Andrew R.; KLEEFSTRA, Tjitske; SMAGT, Jasper J. van der; MORGANTE, Angela Maria Vianne; VRIES, Bert B. A. de; BOKHOVEN, Hans van; BROUWER, Arjan P. M. de (WILEY-LISS, 2010)

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor ...

Reactive Arthritis: From Clinical Features to Pathogenesis

Di Genaro, Maria Silvia; Cargnelutti, Ethelina (Scientific Research, 2013-12)

Reactive arthritis (ReA) is a sterile synovitis which occurs after a gastrointestinal or urogenital infection. ReA belongs to pondyloarthritis (SpA), a group of diseases that share several clinical and radiological features ...

Malformações fetais, defeitos de desenvolvimento e sinais dismorficos em filhos de mães com epilepsiaFetal malformations, development defects and dysmorphic signs in outcomes of women with epilepsy

Costa, Alberto Luiz Cunha da ([s.n.], 2007)

Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectualHereditary disorders of pyrimidines and purine metabolism associated with intellectual disability

Osorio, José Henry; Osorio, Dulcinea; Castro, Juan Carlos (Universidad de Caldas, 2019)

Morphometry And Histology Of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism

Scolfaro M.R.; Cardinalli I.A.; Stuchi-Perez E.G.; De Mello M.P.; De Godoy Assumpcao J.; Baptista M.T.M.; Silva J.M.B.; Maciel-Guerra A.T.; Guerra Jr. G. (, 2001)

Estudio molecular de pacientes colombianos afectados por enanismo esencial

Navarrete Vargas, Julie Viviana (Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)

Microcephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the ...

O sistema nervoso periferico na doença de Machado-Joseph : aspectos clinicos e neurofisiologicosClinical and neurophysiological study of the peripheral nervous system um Machado-Joseph disease

França Junior, Marcondes Cavalcante, 1976- ([s.n.], 2008)

Sickling Cells, Cyclic Nucleotides, And Protein Kinases: The Pathophysiology Of Urogenital Disorders In Sickle Cell Anemia

Claudino M.A.; Fertrin K.Y. (, 2012)

The Effects Of High Doses Of Nandrolone Decanoate And Exercise On Prostate Microvasculature Of Adult And Older Rats

De Melo Neto J.S.; De Campos Gomes F.; Pinheiro P.F.F.; Pereira S.; Scarano W.R.; Favaro W.J.; Domeniconi R.F. (Elsevier Inc., 2015)