Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12MUHAMMAD, Emad; LEVENTHAL, Neta; NAGAR, Tal et al.Human genetics. 2011, Vol 129, Num 4, pp 397-405, issn 0340-6717, 9 p.Article

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genesGEREMEK, Maciej; BRUINENBERG, Marcel; ZIETKIEWICZ, Ewa et al.Human genetics. 2011, Vol 129, Num 3, pp 283-293, issn 0340-6717, 11 p.Article

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21PIRET, Sian E; DANOY, Patrick; LHOTTA, Karl et al.Human genetics. 2011, Vol 129, Num 1, pp 51-58, issn 0340-6717, 8 p.Article

Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcriptKOTE-JARAI, Z; AMIN AL OLAMA, A; SIT, K. C et al.Human genetics. 2011, Vol 129, Num 6, pp 687-694, issn 0340-6717, 8 p.Article

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patientsSU, Pen-Hua; CHEN, Jia-Yuh; YU, Ju-Shan et al.Human genetics. 2011, Vol 129, Num 4, pp 455-462, issn 0340-6717, 8 p.Article

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome familyDRAAKEN, Markus; GIESEN, Carmen A; KESSELHEIM, Anne L et al.Human genetics. 2011, Vol 129, Num 5, pp 513-519, issn 0340-6717, 7 p.Article

Model-based prediction of human hair color using DNA variantsBRANICKI, Wojciech; FAN LIU; VAN DUIJN, Kate et al.Human genetics. 2011, Vol 129, Num 4, pp 443-454, issn 0340-6717, 12 p.Article

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 regionsKLIMENTIDIS, Yann C; ABRAMS, Marshall; WANG, Jelai et al.Human genetics. 2011, Vol 129, Num 4, pp 407-418, issn 0340-6717, 12 p.Article

Neurologic and ocular phenotype in Pitt―Hopkins syndrome and a zebrafish modelBROCKSCHMIDT, Antje; FILIPPI, Alida; CHARBEL ISSA, Peter et al.Human genetics. 2011, Vol 130, Num 5, pp 645-655, issn 0340-6717, 11 p.Article

Partial correlation network analyses to detect altered gene interactions in human disease: using preeclampsia as a modelJOHANSSON, Asa; LØSET, Mari; MUNDAL, Siv B et al.Human genetics. 2011, Vol 129, Num 1, pp 25-34, issn 0340-6717, 10 p.Article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWISZNIEWSKI, Wojciech; LEWIS, Richard Alan; STOCKTON, David W et al.Human genetics. 2011, Vol 129, Num 3, pp 319-327, issn 0340-6717, 9 p.Article

A mutation screen in patients with Kabuki syndromeYUN LI; BÖGERSHAUSEN, Nina; THOENES, Michaela et al.Human genetics. 2011, Vol 130, Num 6, pp 715-724, issn 0340-6717, 10 p.Article

Translating genomics into improved population screening: hype or hope?PASHAYAN, Nora; PHAROAH, Paul.Human genetics. 2011, Vol 130, Num 1, pp 19-21, issn 0340-6717, 3 p.Article

Xist regulation and function eXploredPONTIER, Daphne B; GRIBNAU, Joost.Human genetics. 2011, Vol 130, Num 2, pp 223-236, issn 0340-6717, 14 p.Article

A scaffold for X chromosome inactivationTATTERMUSCH, Anna; BROCKDORFF, Neil.Human genetics. 2011, Vol 130, Num 2, pp 247-253, issn 0340-6717, 7 p.Article

The X-inactivation trans-activator Rnfl2 is negatively regulated by pluripotency factors in embryonic stem cellsNAVARRO, Pablo; MOFFAT, Michael; MULLIN, Nicholas P et al.Human genetics. 2011, Vol 130, Num 2, pp 255-264, issn 0340-6717, 10 p.Article

Mechanistic insights into chromosome-wide silencing in X inactivationARTHOLD, Susanne; KUROWSKI, Agata; WUTZ, Anton et al.Human genetics. 2011, Vol 130, Num 2, pp 295-305, issn 0340-6717, 11 p.Article

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaGAUTHIER, Julie; SIDDIQUI, Tabrez J; FATHALLI, Ferid et al.Human genetics. 2011, Vol 130, Num 4, pp 563-573, issn 0340-6717, 11 p.Article

A genome-wide survey does not show the genetic distinctiveness of BasquesLAAYOUNI, Hafid; CALAFELL, Francesc; BERTRANPETIT, Jaume et al.Human genetics. 2010, Vol 127, Num 4, pp 455-458, issn 0340-6717, 4 p.Article

A homozygous mutation in LTBP2 causes isolated microspherophakiaKUMAR, Arun; DUVVARI, Maheswara R; PRABHAKARAN, Venkatesh C et al.Human genetics. 2010, Vol 128, Num 4, pp 365-371, issn 0340-6717, 7 p.Article

Candidate genes for non-diabetic ESRD in African Americans: a genome-wide association study using pooled DNABOSTROM, Meredith A; LINGYI LU; CHOU, Jeff et al.Human genetics. 2010, Vol 128, Num 2, pp 195-204, issn 0340-6717, 10 p.Article

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPEROSENFELD, Jill A; BALLIF, Blake C; MARTIN, Donna M et al.Human genetics. 2010, Vol 127, Num 4, pp 421-440, issn 0340-6717, 20 p.Article

Copy number variants at Williams-Beuren syndrome 7q11.23 regionMERLA, Giuseppe; BRUNETTI-PIERRI, Nicola; MICALE, Lucia et al.Human genetics. 2010, Vol 128, Num 1, pp 3-26, issn 0340-6717, 24 p.Article

Fine mapping of the 9q31 Hirschsprung's disease locusTANG, C. S; SRIBUDIANI, Y; VERHEIJ, J. B. G. M et al.Human genetics. 2010, Vol 127, Num 6, pp 675-683, issn 0340-6717, 9 p.Article

Genetics of osteoporosis: accelerating pace in gene identification and validationLI, Wen-Feng; HOU, Shu-Xun; BIN YU et al.Human genetics. 2010, Vol 127, Num 3, pp 249-285, issn 0340-6717, 37 p.Article