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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort

Viñuela, Ana ; Brown, Andrew A. ; Buil, Alfonso ; Tsai, Pei-Chien ; Davies, Matthew N. ; Bell, Jordana T. ; Dermitzakis, Emmanouil T. ; Spector, Timothy D. ; Small, Kerrin S.

In: Human Molecular Genetics, 2018, vol. 27, no. 4, p. 732-741

The adaptive significance of chromosomal inversion polymorphisms in Drosophila melanogaster

Kapun, Martin ; Flatt, Thomas

In: Molecular Ecology, 2019, vol. 28, no. 6, p. 1263–1282

Chromosomal inversions, structural mutations that reverse a segment of a chromosome, cause suppression of recombination in the heterozygous state. Several studies have shown that inversion polymorphisms can form clines or fluctuate predictably in frequency over seasonal time spans. These observations prompted the hypothesis that chromosomal rearrangements might be subject to spatially and/or ...

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

Rimella-Le-Huu, A. ; Henry, H. ; Kern, I. ; Hanquinet, S. ; Roulet-Perez, E. ; Newman, C. ; Superti-Furga, A. ; Bonafé, L. ; Ballhausen, D.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, p. 381-386

The contribution of pulse oximetry to the early detection of congenital heart disease in newborns

Arlettaz, Romaine ; Bauschatz, Andrea Seraina ; Mönkhoff, Marion ; Essers, Bettina ; Bauersfeld, Urs

In: European Journal of Pediatrics, 2006, vol. 165, no. 2, p. 94-98

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3

Friedli, Marc ; Nikolaev, Sergey ; Lyle, Robert ; Arcangeli, Mélanie ; Duboule, Denis ; Spitz, François ; Antonarakis, Stylianos

In: Mammalian Genome, 2008, vol. 19, no. 4, p. 272-278

Infective endocarditis in congenital heart disease

Knirsch, Walter ; Nadal, David

In: European Journal of Pediatrics, 2011, vol. 170, no. 9, p. 1111-1127

Failed detection of complex congenital heart disease (including double outlet right ventricle and total anomalous pulmonary venous return) by neonatal pulse oximetry screening

Hetzel, Patrick ; Glanzmann, René ; Günthard, Joëlle ; Bruder, Elisabeth ; Godi, Esther ; Bührer, Christoph

In: European Journal of Pediatrics, 2007, vol. 166, no. 6, p. 625-626

Functional genetic variation of human miRNAs and phenotypic consequences

Borel, Christelle ; Antonarakis, Stylianos

In: Mammalian Genome, 2008, vol. 19, no. 7-8, p. 503-509