Screening of patients with trigonocephaly with markers from the 9p and 11q regions
Fernanda Sarquis Jehee D Johnson; L Alonso; K Abe; N Alonso; Hamilton Matushita; C Kim; S Cavalheiro; S. A Wall; A. O. M Wilkie; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)
Abstracts v. 71, n. 4, suppl., p. 514 res.2017, oct. 2002
Baltimore 2002
Item não circula. Consulte sua biblioteca.(Acessar)
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
Erich Roessler Ping Hu; Juliana Marino; Sungkook Hong; Rachel Hart; Seth Berger; Ariel Martinez; Yu Abe; Paul Kruszka; James W Thomas; James C Mullikin NISC Comparative Sequencing Program; Yupeng Wang; Wendy S. W Wong; John E Niederhuber; Benjamin D Solomon; Antonio Richieri-Costa; Lucilene Arilho Ribeiro Bicudo; Maximilian Muenke
Human Mutation Hoboken v. 39, n. 10, p. 1416-1427, 2018
Hoboken 2018
Item não circula. Consulte sua biblioteca.(Acessar)
Regulatory variants of FOXG1 in the context of its topological domain organisation
Mana M Mehrjouy Ana Carolina S Fonseca; Nadja Ehmke; Giorgio Paskulin; Antonio Novelli; Francesco Benedicenti; Maria Antonietta Mencarelli; Alessandra Renieri; Tiffany Busa; Chantal Missirian; Claus Hansen; Kikue Terada Abe; Carlos Eduardo Speck-Martins; Angela M Vianna-Morgante; Mads Bak; Niels Tommerup
European Journal of Human Genetics London online, Dec. 2017
London 2017
Item não circula. Consulte sua biblioteca.(Acessar)
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Mark Depner Sebastian Fuchs; Jan Raabe; Natalie Frede; Cristina Glocker; Rainer Doffinger; Effrossyni Gkrania-Klotsas; Dinakantha Kumararatne; T. Prescott Atkinson; Harry W Schroeder Jr.; Tim Niehues; Gregor Dückers; Asbjørg Stray-Pedersen; Ulrich Baumann; Reinhold Schmidt; Jose L Franco; Julio Orrego; Moshe Ben-Shoshan; Christine McCusker; Cristina Miuki Abe Jacob; Magda Carneiro-Sampaio; Lisa A Devlin; J. David M Edgar; Paul Henderson; Richard K Russell; Anne-Bine Skytte; Suranjith L Seneviratne; Jennifer Wanders; Hans Stauss; Isabelle Meyts; Leen Moens; Milos Jesenak; Robin Kobbe; Stephan Borte; Michael Borte; Dowain A Wright; David Hagin; Troy R Torgerson; Bodo Grimbacher
Journal of Clinical Immunology New York : Springer v. 36, n. 1, p. 73-84, 2016
New York 2016
Localização:
FM - Fac. Medicina
(BCSEP 064 2016 )(Acessar)