Latest papers

Set-shifting abilities, central coherence, and handedness in anorexia nervosa patients, their unaffected siblings and healthy controls: exploring putative endophenotypes.

Minor histocompatibility antigen HA-1 and HA-2 polymorphisms in Taiwan: frequency and application in hematopoietic stem cell transplantation.

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? FAU - Shaheen, Ranad AU - Shaheen R FAU - Al-Owain, Mohammed AU - Al-Owain M FAU - Sakati, Nadia AU - Sakati N FAU - Alzayed, Zayed S AU - Alzayed ZS FAU - Alkuraya, Fowzan S AU - Alkuraya FS LA - eng PT - Case Reports PT - Comment PT - Letter PL - United States TA - Am J Hum Genet JT - American journal of human genetics JID - 0370475 RN - 0 (Collagen Type I) RN - EC 5.2.1.- (Tacrolimus Binding Proteins) RN - EC 5.2.1.8 (FKBP10 protein, human) SB - IM CON - Am J Hum Genet. 2010 Apr 9;86(4):551-9. PMID: 20362275 EIN - Am J Hum Genet. 2010 Oct 8;87(4):571 PMC - PMC2917708 OID - NLM: PMC2917708 MHDA- 2010/09/02 06:00 PHST- 2010/05/17 [received] PHST- 2010/05/17 [revised] PHST- 2010/05/17 [accepted] AID - S0002-9297(10)00371-X [pii] AID - 10.1016/j.ajhg.2010.05.020 [doi] PST - ppublish SO - Am J Hum Genet. 2010 Aug 13;87(2):306-7; author reply 308.

The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings.

Family scents: developmental changes in the perception of kin body odor?

Sibling caretaking in immigrant families: understanding cultural practices to inform child welfare practice and evaluation.

Research and statistics: generalizability and how it relates to validity.

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels.

Association of intrauterine and early-life exposures with age at menopause in the Sister Study.

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3.

Reduced intensity conditioning HLA identical sibling donor allogeneic stem cell transplantation for patients with follicular lymphoma: long-term follow-up from two prospective multicenter trials.

Epigenetic regulation of vitamin D converting enzymes.

Parental perspectives on caring for a child with chronic kidney disease: an in-depth interview study.

Long-term economic costs of psychological problems during childhood.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.