Support us in the fight for the freedom of knowledge
Sign the petition
Hide info
books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 110; Issue 4
Main
Human Genetics
Volume 110; Issue 4
Human Genetics
Volume 110; Issue 4
1
Molecular characterization of a ring X
Jay W. Ellison
,
Mustafa Tekin
,
Karen Sikes
,
Jerry Yankowitz
,
Larry Shapiro
,
Gudrun A. Rappold
,
Kirk E. Neely
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 63 KB
Your tags:
english, 2002
2
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
J. Häberle
,
S. Pauli
,
M. Linnebank
,
W. Kleijer
,
H. Bakker
,
R. Wanders
,
E. Harms
,
H. Koch
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2002
3
Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA
Mauricio Arcos-Burgos
,
Elba Parodi
,
Marta Salgar
,
Elina Bedoya
,
Juan Builes
,
Diego Jaramillo
,
Gabriel Ceballos
,
Alberto Uribe
,
Natalia Rivera
,
Dora Rivera
,
Idalyd Fonseca
,
Mauricio Camargo
,
Luis Palac
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 89 KB
Your tags:
english, 2002
4
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2
Laurence Faivre
,
André Mégarbané
,
Abdulrahman Alswaid
,
Louise Zylberberg
,
Noura Aldohayan
,
Ana Campos-Xavier
,
Delphine Bacq
,
Laurence Legeai-Mallet
,
Jacky Bonaventure
,
Arnold Munnich
,
Valérie Cormier-
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 243 KB
Your tags:
english, 2002
5
A novel locus for Usher syndrome type
Mirna Mustapha
,
Éliane Chouery
,
Delphine Torchard-Pagnez
,
Sylvie Nouaille
,
Awni Khrais
,
Fouad N. Sayegh
,
André Mégarbané
,
Jacques Loiselet
,
Mark Lathrop
,
Christine Petit
,
Dominique Weil
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 41 KB
Your tags:
english, 2002
6
Genetics and the electroencephalogram
Mark R. Gardiner
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 15 KB
Your tags:
english, 2002
7
Antenatal and Neonatal Screening [Second Edition]
Claude Dorche
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 12 KB
Your tags:
english, 2002
8
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
Jeffrey E. Ming
,
Michelle E. Kaupas
,
Erich Roessler
,
Han G. Brunner
,
Mahin Golabi
,
Mustafa Tekin
,
Robert F. Stratton
,
Eva Sujansky
,
Sherri J. Bale
,
Maximilian Muenke
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 86 KB
Your tags:
english, 2002
9
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin
David Morgan
,
Judith Goodship
,
Jeffrey J. Essner
,
Kyle J. Vogan
,
Lee Turnpenny
,
Joseph H. Yost
,
Clifford J. Tabin
,
Tom Strachan
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2002
10
Genetic variation in α1-antichymotrypsin and its association with Alzheimer’s disease
Xiaoyan Wang
,
Steven T. DeKosky
,
Erin Luedecking-Zimmer
,
Mary Ganguli
,
Ilyas M. Kamboh
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2002
11
Unstable transmission of the RS447 human megasatellite tandem repetitive sequence that contains theUSP17deubiquitinating enzyme gene
Takeya Okada
,
Yoichi Gondo
,
Jun Goto
,
Ichiro Kanazawa
,
Shinji Hadano
,
Joh-E Ikeda
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 279 KB
Your tags:
english, 2002
12
Haploinsufficiency ofPAX9is associated with autosomal dominant hypodontia
Parimal Das
,
David W. Stockton
,
Christopher Bauer
,
Lisa G. Shaffer
,
Rena N. D'Souza
,
Timothy J. Wright
,
Pragna I. Patel
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2002
13
A locus for hereditary capillary malformations mapped on chromosome 5q
Corstiaan C. Breugem
,
Marielle Alders
,
Georgette B. Salieb-Beugelaar
,
Marcel M. Mannens
,
Chantal M. Van Der Horst
,
Raoul C. Hennekam
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2002
14
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
Stefano Regis
,
Fabio Corsolini
,
Marina Stroppiano
,
Roberto Cusano
,
Mirella Filocamo
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 66 KB
Your tags:
english, 2002
15
Advances in Genetics, volume 14. Tay-Sachs Disease
Ian Ellis
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 14 KB
Your tags:
english, 2002
16
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region
Cristina Gervasini
,
Angela Bentivegna
,
Marco Venturin
,
Lucia Corrado
,
Lidia Larizza
,
Paola Riva
Journal:
Human Genetics
Year:
2002
Language:
english
File:
PDF, 195 KB
Your tags:
english, 2002
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×
Support us in the fight for the freedom of knowledge
Sign the petition
Hide info
