Human genetics

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Number of items: 8.

2018

Tamang, Rakesh; Chaubey, Gyaneshwer; Nandan, Amrita; Govindaraj, Periyasamy; Singh, Vipin Kumar; Rai, Niraj; Mallick, Chandana Basu; Sharma, Vishwas; Sharma, Varun Kumar; Shah, Anish M; Lalremruata, Albert; Reddy, Alla G; Rani, Deepa Selvi; Doviah, Pilot; Negi, Neetu; Hadid, Yarin; Pande, Veena; Vishnupriya, Satti; van Driem, George; Behar, Doron M; ... (2018). Reconstructing the demographic history of the Himalayan and adjoining populations. Human genetics, 137(2), pp. 129-139. Springer 10.1007/s00439-018-1867-2

2016

Meienberg, Janine; Bruggmann, Rémy; Oexle, Konrad; Matyas, Gabor (2016). Clinical sequencing: is WGS the better WES? Human genetics, 135(3), pp. 359-362. Springer 10.1007/s00439-015-1631-9

Hackinger, Sophie; Kraaijenbrink, Thirsa; Xue, Yali; Massimo, Mezzavilla; Asan, -; Jobling, Mark A.; van Driem, George; de Knijff, Peter; Tyler-Smith, Chris; Ayub, Qasim (2016). Wide distribution and altitude correlation of an archaic high-altitude adaptive EPAS1 haplotype in the Himalayas. Human genetics, 135(4), pp. 393-402. Springer

2015

Drögemüller, Michaela; Jagannathan, Vidhya; Dolf, Gaudenz; Butenhoff, Karin; Kottmann-Berger, Suzanne; Wess, Gerhard; Leeb, Tosso (2015). A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs. Human genetics, 134(1), pp. 127-129. Springer 10.1007/s00439-014-1506-5

Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; Accorsi, Patrizia; Avola, Emanuela; Bertini, Enrico; Borgatti, Renato; Romaniello, Romina; Ceylaner, Serdar; Coppola, Giangennaro; D'Arrigo, Stefano; Giordano, Lucio; Janecke, Andreas R; Lituania, Mario; Ludwig, Kathrin; Martorell, Loreto; Mazza, Tommaso; Odent, Sylvie; ... (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human genetics, 134(1), pp. 123-126. Springer 10.1007/s00439-014-1508-3

2010

LopezJimenez, Nelson; Gerber, Simon; Popovici, Vlad; Mirza, Sonia; Copren, Kirsten; Ta, Linda; Shaw, Gary M; Trueb, Beat; Slavotinek, Anne M (2010). Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Human genetics, 127(3), pp. 325-36. Berlin: Springer 10.1007/s00439-009-0777-8

2009

Little, Julian; Higgins, Julian P T; Ioannidis, John P A; Moher, David; Gagnon, France; von Elm, Erik; Khoury, Muin J; Cohen, Barbara; Davey-Smith, George; Grimshaw, Jeremy; Scheet, Paul; Gwinn, Marta; Williamson, Robin E; Zou, Guang Yong; Hutchings, Kim; Johnson, Candice Y; Tait, Valerie; Wiens, Miriam; Golding, Jean; van Duijn, Cornelia; ... (2009). Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement. Human genetics, 125(2), pp. 131-151. Berlin: Springer 10.1007/s00439-008-0592-7

2007

Mátyás, Gábor; Alonso, Sira; Patrignani, Andrea; Marti, Myriam; Arnold, Eliane; Magyar, István; Henggeler, Caroline; Carrel, Thierry; Steinmann, Beat; Berger, Wolfgang (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human genetics, 122(1), pp. 23-32. Berlin: Springer 10.1007/s00439-007-0371-x

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