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
Personal
Book Requests
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 129; Issue 4
Main
Human Genetics
Volume 129; Issue 4
Human Genetics
Volume 129; Issue 4
1
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site ofCarbonic Anhydrase 12
Emad Muhammad
,
Neta Leventhal
,
Galit Parvari
,
Aaron Hanukoglu
,
Israel Hanukoglu
,
Vered Chalifa-Caspi
,
Yael Feinstein
,
Jenny Weinbrand
,
Harel Jacoby
,
Esther Manor
,
Tal Nagar
,
John C. Beck
,
Val C. Sheff
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 296 KB
Your tags:
english, 2011
2
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice
Angelica Nordin
,
Elin Larsson
,
Lars-Eric Thornell
,
Monica Holmberg
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2011
3
Comprehensive description ofCFTRgenotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
Alix de Becdelièvre
,
Catherine Costa
,
Jean-Marie Jouannic
,
Annick LeFloch
,
Irina Giurgea
,
Josiane Martin
,
Rachel Médina
,
Brigitte Boissier
,
Christine Gameiro
,
Françoise Muller
,
Michel Goossens
,
Corinn
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 304 KB
Your tags:
english, 2011
4
DFNB89,a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
Sulman Basit
,
Kwanghyuk Lee
,
Rabia Habib
,
Leon Chen
,
Umm-e-Kalsoom
,
Regie Lyn P. Santos-Cortez
,
Zahid Azeem
,
Paula Andrade
,
Muhammad Ansar
,
Wasim Ahmad
,
Suzanne M. Leal
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 404 KB
Your tags:
english, 2011
5
Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions
Yann C. Klimentidis
,
Marshall Abrams
,
Jelai Wang
,
Jose R. Fernandez
,
David B. Allison
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 473 KB
Your tags:
english, 2011
6
Distribution of the number of false discoveries in large-scale family-based association testing with application to the association betweenPTPN1and hypertension and obesity
Wen-Chang Wang
,
Chao A. Hsiung
,
Lan-Chao Wang
,
Lee-Ming Chuang
,
Thomas Quertermous
,
I-Shou Chang
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 486 KB
Your tags:
english, 2011
7
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
Naveed Wasif
,
Syed Kamran ul-Hassan Naqvi
,
Sulman Basit
,
Nadir Ali
,
Muhammad Ansar
,
Wasim Ahmad
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 413 KB
Your tags:
english, 2011
8
Model-based prediction of human hair color using DNA variants
Wojciech Branicki
,
Fan Liu
,
Kate van Duijn
,
Jolanta Draus-Barini
,
Ewelina Pośpiech
,
Susan Walsh
,
Tomasz Kupiec
,
Anna Wojas-Pelc
,
Manfred Kayser
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 408 KB
Your tags:
english, 2011
9
Characterization of theZBTB42gene in humans and mice
Stephanie A. Devaney
,
Suzanne E. Mate
,
Joseph M. Devaney
,
Eric P. Hoffman
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 598 KB
Your tags:
english, 2011
10
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients
Pen-Hua Su
,
Jia-Yuh Chen
,
Ju-Shan Yu
,
Suh-Jen Chen
,
Shun-Fa Yang
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 217 KB
Your tags:
english, 2011
11
Rebecca Skloot: The immortal life of Henrietta Lacks
Peter S. Harper
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 135 KB
Your tags:
english, 2011
12
Revisiting Mendelian disorders through exome sequencing
Chee-Seng Ku
,
Nasheen Naidoo
,
Yudi Pawitan
Journal:
Human Genetics
Year:
2011
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2011
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
×
×