Showing 1–19 of 19 results
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Research | | Open
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
- Muhammad Farooq
- , Louise Lindbæk
- , Nicolai Krogh
- , Canan Doganli
- , Cecilie Keller
- , Maren Mönnich
- , André Brás Gonçalves
- , Srinivasan Sakthivel
- , Yuan Mang
- , Ambrin Fatima
- , Vivi Søgaard Andersen
- , Muhammad S. Hussain
- , Hans Eiberg
- , Lars Hansen
- , Klaus Wilbrandt Kjaer
- , Jay Gopalakrishnan
- , Lotte Bang Pedersen
- , Kjeld Møllgård
- , Henrik Nielsen
- , Shahid. M. Baig
- , Niels Tommerup
- , Søren Tvorup Christensen
- & Lars Allan Larsen
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
- Mette Gilling
- , Marlene Briciet Lauritsen
- , Morten Møller
- , Karen Friis Henriksen
- , Astrid Vicente
- , Guiomar Oliveira
- , Christina Cintin
- , Hans Eiberg
- , Paal Skyt Andersen
- , Ole Mors
- , Thomas Rosenberg
- , Karen Brøndum-Nielsen
- , Rodney M J Cotterill
- , Claes Lundsteen
- , Hans-Hilger Ropers
- , Reinhard Ullmann
- , Iben Bache
- , Zeynep Tümer
- & Niels Tommerup
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A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
- Heiko Witt
- , Miklós Sahin-Tóth
- , Olfert Landt
- , Jian-Min Chen
- , Thilo Kähne
- , Joost PH Drenth
- , Zoltán Kukor
- , Edit Szepessy
- , Walter Halangk
- , Stefan Dahm
- , Klaus Rohde
- , Hans-Ulrich Schulz
- , Cédric Le Maréchal
- , Nejat Akar
- , Rudolf W Ammann
- , Kaspar Truninger
- , Mario Bargetzi
- , Eesh Bhatia
- , Carlo Castellani
- , Giulia Martina Cavestro
- , Milos Cerny
- , Giovanni Destro-Bisol
- , Gabriella Spedini
- , Hans Eiberg
- , Jan B M J Jansen
- , Monika Koudova
- , Eva Rausova
- , Milan Macek Jr
- , Núria Malats
- , Francisco X Real
- , Hans-Jürgen Menzel
- , Pedro Moral
- , Roberta Galavotti
- , Pier Franco Pignatti
- , Olga Rickards
- , Julius Spicak
- , Narcis Octavian Zarnescu
- , Wolfgang Böck
- , Thomas M Gress
- , Helmut Friess
- , Johann Ockenga
- , Hartmut Schmidt
- , Roland Pfützer
- , Matthias Löhr
- , Peter Simon
- , Frank Ulrich Weiss
- , Markus M Lerch
- , Niels Teich
- , Volker Keim
- , Thomas Berg
- , Bertram Wiedenmann
- , Werner Luck
- , David Alexander Groneberg
- , Michael Becker
- , Thomas Keil
- , Andreas Kage
- , Jana Bernardova
- , Markus Braun
- , Claudia Güldner
- , Juliane Halangk
- , Jonas Rosendahl
- , Ulrike Witt
- , Matthias Treiber
- , Renate Nickel
- & Claude Férec
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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
- Muhammad Farooq
- , Jesper T Troelsen
- , Mette Boyd
- , Hans Eiberg
- , Lars Hansen
- , Muhammad Sajid Hussain
- , Shoaib ur Rehman
- , Aysha Azhar
- , Amjad Ali
- , Syeda Marriam Bakhtiar
- , Niels Tommerup
- , Shahid Mahmood Baig
- & Klaus W Kjaer
European Journal of Human Genetics 18 , 733–736 -
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A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA
- Kay Tanaka
- , Niels Gregersen
- , Antonia Ribes
- , Julie Kim
- , Steen Kølvraa
- , Vibeke Winter
- , Hans Eiberg
- , Gemma Martinez
- , Thomas Deufel
- , Barbara Leifert
- , Rene Santer
- , Baudouin Francois
- , Ewa Pronicka
- , Aranka Laszló
- , Stanislav Kmoch
- , Ivo Kremensky
- , Luba Kalaydjicva
- , Imran Ozalp
- & Michinori Ito
Pediatric Research 41 , 201–209 -
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Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
- Lasse Maretty
- , Jacob Malte Jensen
- , Bent Petersen
- , Jonas Andreas Sibbesen
- , Siyang Liu
- , Palle Villesen
- , Laurits Skov
- , Kirstine Belling
- , Christian Theil Have
- , Jose M. G. Izarzugaza
- , Marie Grosjean
- , Jette Bork-Jensen
- , Jakob Grove
- , Thomas D. Als
- , Shujia Huang
- , Yuqi Chang
- , Ruiqi Xu
- , Weijian Ye
- , Junhua Rao
- , Xiaosen Guo
- , Jihua Sun
- , Hongzhi Cao
- , Chen Ye
- , Johan van Beusekom
- , Thomas Espeseth
- , Esben Flindt
- , Rune M. Friborg
- , Anders E. Halager
- , Stephanie Le Hellard
- , Christina M. Hultman
- , Francesco Lescai
- , Shengting Li
- , Ole Lund
- , Peter Løngren
- , Thomas Mailund
- , Maria Luisa Matey-Hernandez
- , Ole Mors
- , Christian N. S. Pedersen
- , Thomas Sicheritz-Pontén
- , Patrick Sullivan
- , Ali Syed
- , David Westergaard
- , Rachita Yadav
- , Ning Li
- , Xun Xu
- , Torben Hansen
- , Anders Krogh
- , Lars Bolund
- , Thorkild I. A. Sørensen
- , Oluf Pedersen
- , Ramneek Gupta
- , Simon Rasmussen
- , Søren Besenbacher
- , Anders D. Børglum
- , Jun Wang
- , Hans Eiberg
- , Karsten Kristiansen
- , Søren Brunak
- & Mikkel Heide Schierup
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Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios
- Søren Besenbacher
- , Siyang Liu
- , José M. G. Izarzugaza
- , Jakob Grove
- , Kirstine Belling
- , Jette Bork-Jensen
- , Shujia Huang
- , Thomas D. Als
- , Shengting Li
- , Rachita Yadav
- , Arcadio Rubio-García
- , Francesco Lescai
- , Ditte Demontis
- , Junhua Rao
- , Weijian Ye
- , Thomas Mailund
- , Rune M. Friborg
- , Christian N. S. Pedersen
- , Ruiqi Xu
- , Jihua Sun
- , Hao Liu
- , Ou Wang
- , Xiaofang Cheng
- , David Flores
- , Emil Rydza
- , Kristoffer Rapacki
- , John Damm Sørensen
- , Piotr Chmura
- , David Westergaard
- , Piotr Dworzynski
- , Thorkild I. A. Sørensen
- , Ole Lund
- , Torben Hansen
- , Xun Xu
- , Ning Li
- , Lars Bolund
- , Oluf Pedersen
- , Hans Eiberg
- , Anders Krogh
- , Anders D. Børglum
- , Søren Brunak
- , Karsten Kristiansen
- , Mikkel H. Schierup
- , Jun Wang
- , Ramneek Gupta
- , Palle Villesen
- & Simon Rasmussen
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