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Volume 109; Issue 1
Main
Human Genetics
Volume 109; Issue 1
Human Genetics
Volume 109; Issue 1
1
Nomenclature for the description of human sequence variations
Dunnen, J. den
,
S., Antonarakis
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 29 KB
Your tags:
english, 2001
2
Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene
Martí
,
nez-Arias, Rosa
,
Mateu, Eva
,
Bertranpetit, Jaume
,
Calafell, Francesc
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2001
3
Population-based risk estimates of Wilms tumor in sporadic aniridia
Grø
,
nskov, Karen
,
Olsen, Jø
,
rgen
,
Sand, Annie
,
Pedersen, Winni
,
Carlsen, Niels
,
Jylling, Anne
,
Lyngbye, Troels
,
Brø
,
ndum-Nielsen, Karen
,
Rosenberg, Thomas
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2001
4
Niemann-Pick type C disease:NPC1mutations associated with severe and mild cellular cholesterol trafficking alterations
Ribeiro, Isaura
,
Marcã
,
o, Ana
,
Amaral, Olga
,
Sá
,
Miranda, Maria
,
Vanier, Marie
,
Millat, Gilles
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 90 KB
Your tags:
english, 2001
5
"Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype
S., Mü
,
ller
,
J., Wienberg
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 368 KB
Your tags:
english, 2001
6
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers
A., Bentivegna
,
M., Venturin
,
C., Gervasini
,
L., Corrado
,
L., Larizza
,
P., Riva
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 92 KB
Your tags:
english, 2001
7
Identification of novel mutations inSHHandZIC2in a South American (ECLAMC) population with holoprosencephaly
Orioli, Iê
,
da
,
Castilla, Eduardo
,
Ming, Jeffrey
,
Nazer, Julio
,
Burle de Aguiar, Marcos
,
Llerena, Juan
,
Muenke, Maximilian
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 92 KB
Your tags:
english, 2001
8
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families
Brown, Michael
,
Zhadanov, Sergei
,
Allen, Jon
,
Hosseini, Seyed
,
Newman, Nancy
,
Atamonov, Vasily
,
Mikhailovskaya, Irina
,
Sukernik, Rem
,
Wallace, Douglas
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 79 KB
Your tags:
english, 2001
9
Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency
Trbuš
,
ek, Martin
,
Francová
,
, Hana
,
Kozá
,
k, Libor
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2001
10
Frequency of replication/transcription errors in (A)/(T) runs of human genes
S., Antonarakis
,
A., Paoloni-Giacobino
,
C., Rossier
,
M., Papasavvas
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2001
11
Duplication and transposition of theNF1pseudogene regions on chromosomes
Redeker, Sandra
,
Minoshima, Shinsei
,
Shimizu, Nobuyoshi
,
Westerveld, Andries
,
Hulsebos, Theo
,
Luijten, Mirjam
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 162 KB
Your tags:
english, 2001
12
Glycerol kinase deficiency: Evidence for complexity in a single gene disorder
Dipple, K.M.
,
Zhang, Y.-H.
,
Huang, B.-L.
,
McCabe, L.L.
,
Dallongeville, J.
,
Inokuchi, T.
,
Kimura, M.
,
Marx, H.J.
,
Roederer, G.O.
,
Shih, V.
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2001
13
A molecular approach to dominance in hypophosphatasia
A., Taillandier
,
J., Gibrat
,
M., Mouchard
,
B., Robin
,
B., Simon-Bouy
,
J., Serre
,
A., Aylsworth
,
E., Bieth
,
A., Lia-Baldini
,
F., Muller
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2001
14
Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms
Sironi, Manuela
,
Pozzoli, Uberto
,
Cagliani, Rachele
,
Comi, Giacomo
,
Bardoni, Alessandra
,
Bresolin, Nereo
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2001
15
Glutamine repeats and neurodegenerative diseases: molecular aspects
Quarrell, Oliver
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 13 KB
Your tags:
english, 2001
16
Chimpanzee apolipoprotein
D., Sanghera
,
C., Nestlerode
,
R., Ferrell
,
M., Kamboh
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 182 KB
Your tags:
english, 2001
17
A polymorphism in the promoter region of catalase is associated with blood pressure levels
Jiang, Zhengwen
,
Akey, Joshua
,
Shi, Jinxiu
,
Xiong, Momiao
,
Wang, Ying
,
Shen, Yayun
,
Xu, Xiaoyun
,
Chen, Hua
,
Wu, Hong
,
Xiao, Junhua
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 42 KB
Your tags:
english, 2001
18
Genetic basis of mitochondrial HMG-CoA synthase deficiency
Aledo, Rosa
,
Zschocke, Johannes
,
Pié
,
, Juan
,
Mir, Cecilia
,
Fiesel, Sonja
,
Mayatepek, Ertan
,
Hoffmann, Georg
,
Casals, Nú
,
ria
,
Hegardt, Fausto
Journal:
Human Genetics
Year:
2001
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2001
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