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Co-authors
(16)
Thomas Haaf
2
Oliver Bartsch
2
Ulrich Zechner
2
Eva Klopocki
1
Nicolai Kohlschmidt
1
Journals
(2)
AM J MED GENET PART A
1
EUR J MED GENET
1
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Authors
Konstanze Gebauer
Konstanze Gebauer,Johannes Gutenberg University Mainz,Genetics & Genealogy,Medicine
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Konstanze Gebauer
Johannes Gutenberg University Mainz
Publications:
2
|
Citations:
5
Fields:
Genetics & Genealogy
,
Medicine
View FAQ about top research areas and Fields of study
Collaborated with
16 co-authors
from 2009 to 2010
|
Cited by
65 authors
Cumulative
Annual
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Publications
(2)
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Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
(
Citations: 5
)
Oliver Bartsch
,
Konstanze Gebauer
,
Stanislav Lechno
,
Hilde van Esch
,
Guy Froyen
,
Michael Bonin
,
Jörg Seidel
,
Barbara Thamm-Mücke
,
Denise Horn
,
Eva Klopocki
,
Christoph Hertzberg
,
Ulrich Zechner
http://academic.research.microsoft.com/io.ashx?type=5&id=34292349&selfId1=55383254&selfId2=0&maxNumber=12&query=
Journal:
American Journal of Medical Genetics Part A - AM J MED GENET PART A
, vol. 152A, no. 2, pp. 305-312, 2010
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
Ulrich Zechner
,
Nicolai Kohlschmidt
,
Olga Kempf
,
Konstanze Gebauer
,
Karsten Haug
,
Hartmut Engels
,
Thomas Haaf
,
Oliver Bartsch
Journal:
European Journal of Medical Genetics - EUR J MED GENET
, vol. 52, no. 5, pp. 306-310, 2009
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Citations
(5 times by 5 publications)
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Vafa Bayat
,
Isabelle Thiffault
,
Manish Jaiswal
,
Martine Tétreault
,
Taraka Donti
,
Florin Sasarman
,
Geneviève Bernard
,
Julie Demers-Lamarche
,
Marie-Josée Dicaire
,
Jean Mathieu
,
Michel Vanasse
,
Jean-Pierre Bouchard
http://academic.research.microsoft.com/io.ashx?type=5&id=57418255&selfId1=55383254&selfId2=0&maxNumber=12&query=
Journal:
PLOS Biology - PLOS BIOL
, vol. 10, no. 3, 2012
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation
Shozo Honda
,
Shigeko Satomura
,
Shin Hayashi
,
Issei Imoto
,
Eiji Nakagawa
,
Yu-ichi Goto
,
Johji Inazawa
Journal:
Journal of Human Genetics - J HUM GENET
, vol. 57, no. 1, pp. 73-77, 2012
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
(
Citations: 1
)
Claudia M B Carvalho
,
Davut Pehlivan
,
Luis M Franco
,
Claudia Gonzaga-Jauregui
,
Ping Fang
,
Alanna McCall
,
Eniko Karman Pivnick
,
Stacy Hines-Dowell
,
Laurie H Seaver
,
Linda Friehling
,
Sansan Lee
,
Rosemarie Smith
http://academic.research.microsoft.com/io.ashx?type=5&id=56593839&selfId1=55383254&selfId2=0&maxNumber=12&query=
Journal:
Nature Genetics - NAT GENET
, vol. 43, no. 11, pp. 1074-1081, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Ute Grasshoff
,
Michael Bonin
,
Ina Goehring
,
Arif Ekici
,
Andreas Dufke
,
Kirsten Cremer
,
Nicholas Wagner
,
Eva Rossier
,
Anna Jauch
,
Michael Walter
,
Claudia Bauer
,
Peter Bauer
http://academic.research.microsoft.com/io.ashx?type=5&id=56548343&selfId1=55383254&selfId2=0&maxNumber=12&query=
Journal:
European Journal of Human Genetics - EUR J HUMAN GENET
, vol. 19, no. 5, pp. 507-512, 2011
Low-latency multicarrier transmission using generalized DMT modulation
Stefen Trautmann
,
N. J. Fliege
Conference:
International Symposium on Control, Communications and Signal Processing - ISCCSP
, 2004
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