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Volume 117; Issue 6
Main
Human Genetics
Volume 117; Issue 6
Human Genetics
Volume 117; Issue 6
1
Michael Schmid, Indrajit Nanda (eds): Chromosomes Today, Vol 14, Kluwer, 2004, ISBN 1-4020-0091-X, hardcover, £76
Rod Howell
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 125 KB
Your tags:
english, 2005
2
Haploinsufficiency of novelFOXG1Bvariants in a patient with severe mental retardation, brain malformations and microcephaly
Sarah A. Shoichet
,
Stella-Amrei Kunde
,
Petra Viertel
,
Can Schell-Apacik
,
Hubertus von Voss
,
Niels Tommerup
,
Hans-Hilger Ropers
,
Vera M. Kalscheuer
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 358 KB
Your tags:
english, 2005
3
Reciprocal translocations: a trap for cytogenetists?
Roberto Ciccone
,
Roberto Giorda
,
Giuliana Gregato
,
Renzo Guerrini
,
Sabrina Giglio
,
Romeo Carrozzo
,
Maria Clara Bonaglia
,
Emanuela Priolo
,
Carmelo Laganà
,
Romano Tenconi
,
Mariano Rocchi
,
Tiziano Prampa
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 629 KB
Your tags:
english, 2005
4
ComplexHTR2Clinkage disequilibrium and promoter associations with body mass index and serum leptin
Shane McCarthy
,
Salim Mottagui-Tabar
,
Yumi Mizuno
,
Bengt Sennblad
,
Johan Hoffstedt
,
Peter Arner
,
Claes Wahlestedt
,
Björn Andersson
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 422 KB
Your tags:
english, 2005
5
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
Marie Wattenhofer
,
Nilüfer Sahin-Calapoglu
,
Ditte Andreasen
,
Ersan Kalay
,
Refik Caylan
,
Bastien Braillard
,
Nicole Fowler-Jaeger
,
Alexandre Reymond
,
Bernard C. Rossier
,
Ahmet Karaguzel
,
Stylianos E. An
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 388 KB
Your tags:
english, 2005
6
Use of autosomal loci for clustering individuals and populations of East Asian origin
Jong-Jin Kim
,
Paul Verdu
,
Andrew J. Pakstis
,
William C. Speed
,
Judith R. Kidd
,
Kenneth K. Kidd
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 516 KB
Your tags:
english, 2005
7
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency
Jörg Bojunga
,
Christoph Welsch
,
Iris Antes
,
Mario Albrecht
,
Thomas Lengauer
,
Stefan Zeuzem
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 459 KB
Your tags:
english, 2005
8
Ten novel mutations in the molybdenum cofactor genesMOCS1 andMOCS2 and in vitro characterization of aMOCS2 mutation that abolishes the binding ability of molybdopterin synthase
Silke Leimkühler
,
Mathilde Charcosset
,
Philippe Latour
,
Claude Dorche
,
Soledad Kleppe
,
Fernando Scaglia
,
Irmina Szymczak
,
Petra Schupp
,
Rita Hahnewald
,
Jochen Reiss
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 278 KB
Your tags:
english, 2005
9
Genetic association analyses ofPHOX2BandASCL1in neuropsychiatric disorders: evidence for association ofASCL1with Parkinson’s disease
Masayuki Ide
,
Kazuo Yamada
,
Tomoko Toyota
,
Yoshimi Iwayama
,
Yuichi Ishitsuka
,
Yoshio Minabe
,
Kazuhiko Nakamura
,
Nobutaka Hattori
,
Takashi Asada
,
Yoshikuni Mizuno
,
Norio Mori
,
Takeo Yoshikawa
Journal:
Human Genetics
Year:
2005
Language:
english
File:
PDF, 271 KB
Your tags:
english, 2005
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