| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12
|
Muhammad, Emad
|
|
2010
|
129 |
4 |
p. 397-405
|
article
|
| 2 |
Characterization of the ZBTB42 gene in humans and mice
|
Devaney, Stephanie A.
|
|
2010
|
129 |
4 |
p. 433-441
|
article
|
| 3 |
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy
|
Becdelièvre, Alix de
|
|
2010
|
129 |
4 |
p. 387-396
|
article
|
| 4 |
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
|
Basit, Sulman
|
|
2010
|
129 |
4 |
p. 379-385
|
article
|
| 5 |
Distribution of the number of false discoveries in large-scale family-based association testing with application to the association between PTPN1 and hypertension and obesity
|
Wang, Wen-Chang
|
|
2010
|
129 |
4 |
p. 425-432
|
article
|
| 6 |
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients
|
Su, Pen-Hua
|
|
2010
|
129 |
4 |
p. 455-462
|
article
|
| 7 |
Model-based prediction of human hair color using DNA variants
|
Branicki, Wojciech
|
|
2010
|
129 |
4 |
p. 443-454
|
article
|
| 8 |
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
|
Klimentidis, Yann C.
|
|
2010
|
129 |
4 |
p. 407-418
|
article
|
| 9 |
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
|
Wasif, Naveed
|
|
2010
|
129 |
4 |
p. 419-424
|
article
|
| 10 |
Rebecca Skloot: The immortal life of Henrietta Lacks
|
Harper, Peter S.
|
|
2011
|
129 |
4 |
p. 463-464
|
article
|
| 11 |
Revisiting Mendelian disorders through exome sequencing
|
Ku, Chee-Seng
|
|
2011
|
129 |
4 |
p. 351-370
|
article
|
| 12 |
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
|
Nordin, Angelica
|
|
2010
|
129 |
4 |
p. 371-378
|
article
|
Journal description