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 106; Issue 5
Main
Human Genetics
Volume 106; Issue 5
Human Genetics
Volume 106; Issue 5
1
Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type
James P. Burke
,
Ravindranath Duggirala
,
Daniel E. Hale
,
John Blangero
,
Michael P. Stern
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 44 KB
Your tags:
english, 2000
2
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
Anna M. Estop
,
Kathy Cieply
,
Santiago Munne
,
Urvashi Surti
,
Anthony Wakim
,
Eleanor Feingold
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2000
3
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies
Yuriy O. Shevchenko
,
John G. Compton
,
Jorge R. Toro
,
John J. DiGiovanna
,
Sherri J. Bale
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 295 KB
Your tags:
english, 2000
4
Fine mapping of the constitutional translocation t(11;22)(q23;q11)
Isabel Tapia-Páez
,
Kevin P. O'Brien
,
Maria Kost-Alimova
,
Sigrid Sahlén
,
Darek Kedra
,
Carl E. G. Bruder
,
Björn Andersson
,
Bruce A. Roe
,
Ping Hu
,
Stephan Imreh
,
Elisabeth Blennow
,
Jan P. Dumanski
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 542 KB
Your tags:
english, 2000
5
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phoxand p22-phoxdeficiency
Fuminari Ishibashi
,
Hiroyuki Nunoi
,
Fumio Endo
,
Ichiro Matsuda
,
Shiro Kanegasaki
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 151 KB
Your tags:
english, 2000
6
Interchromosomal effects for chromosome
Joan Blanco
,
Josep Egozcue
,
Francesca Vidal
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 43 KB
Your tags:
english, 2000
7
The mutation of Pro789to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ATPase (SERCA1) and is associated with Brody disease
Alex Odermatt
,
Kimby Barton
,
Vijay K. Khanna
,
Jean Mathieu
,
Diana Escolar
,
Thierry Kuntzer
,
George Karpati
,
David H. MacLennan
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 599 KB
Your tags:
english, 2000
8
Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction
Klio Maratou
,
Yasmeen Siddique
,
Anna M. Kessling
,
Gail E. Davies
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 203 KB
Your tags:
english, 2000
9
A 5-base insertion in the ?C-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
Zhaoxia Ren
,
Anren Li
,
Barker S. Shastry
,
Tirunilai Padma
,
Radha Ayyagari
,
Mark H. Scott
,
Marshall M. Parks
,
Muriel I. Kaiser-Kupfer
,
J. Fielding Hejtmancik
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2000
10
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Timo Imbach
,
Stephanie Grünewald
,
Barbara Schenk
,
Patricie Burda
,
Els Schollen
,
Ron A. Wevers
,
Jaak Jaeken
,
Johannis B.C. de Klerk
,
Eric G. Berger
,
Gert Matthijs
,
Markus Aebi
,
Thierry Hennet
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2000
11
Association of the low-density lipoprotein receptor gene with obesity in Native American populations
Vanessa S. Mattevi
,
Carlos E. A. Coimbra Jr
,
Ricardo V. Santos
,
Francisco M. Salzano
,
Mara H. Hutz
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 95 KB
Your tags:
english, 2000
12
A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden
Yin Yao Shugart
,
Kari Hemminki
,
Pauli Vaittinen
,
Albert Kingman
,
Chuanhui Dong
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2000
13
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13
Michael J. Kelley
,
William Jawien
,
Albert Lin
,
Karen Hoffmeister
,
Elizabeth W. Pugh
,
Kimberly F. Doheny
,
Jeannette F. Korczak
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 108 KB
Your tags:
english, 2000
14
Analysis of genetic polymorphisms in the transforming growth factor-ß1 gene and the risk of Alzheimer's disease
Erin K. Luedecking
,
Steven T. DeKosky
,
Haider Mehdi
,
Mary Ganguli
,
M. Ilyas Kamboh
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2000
15
Erratum to Mutation and polymorphism analysis of theTRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
Yuichi Miura
,
Sek Mardy
,
Yutaka Awaya
,
Kenji Nihei
,
Fumio Endo
,
Ichiro Matsuda
,
Yasuhiro Indo
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 10 KB
Your tags:
english, 2000
16
Variation in alphoid DNA size and trisomy
Klio Maratou,Yasmeen Siddique,Anna M. Kessling,Gail E. Davies
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 203 KB
Your tags:
english, 2000
17
A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract
Zhaoxia Ren,Anren Li,Barker S. Shastry,Tirunilai Padma,Radha Ayyagari…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2000
18
A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden
Yin Yao Shugart,Kari Hemminki,Pauli Vaittinen,Albert Kingman…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2000
19
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Timo Imbach,Stephanie Grünewald,Barbara Schenk,Patricie Burda…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2000
20
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13
Michael J. Kelley,William Jawien,Albert Lin,Karen Hoffmeister…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 108 KB
Your tags:
english, 2000
21
Association of the low-density lipoprotein receptor gene with obesity in Native American populations
Vanessa S. Mattevi,Carlos E. A. Coimbra Jr,Ricardo V. Santos…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 95 KB
Your tags:
english, 2000
22
Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease
Erin K. Luedecking,Steven T. DeKosky,Haider Mehdi,Mary Ganguli…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2000
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
×
×