Latest papers

[Guidelines for management of autosomal recessive polycystic kidney disease]. AU - No author LA - jpn PT - Journal Article PL - Japan TA - Nihon Jinzo Gakkai Shi JT - Nihon Jinzo Gakkai shi JID - 7505731 RN - 0 (PKHD1 protein, human) RN - 0 (Receptors, Cell Surface) SB - IM Recessive/diagnosis/pathology/physiopathology/therapy MHDA- 2011/10/07 06:00 PST - ppublish SO - Nihon Jinzo Gakkai Shi. 2011;53(4):579-83.

Genetic and epigenetic findings in Silver-Russell syndrome.

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.

Genetics of Alzheimer disease.

What's next in preconception care: the universal genetic test?

Management of ornithine transcarbamylase deficiency in pregnancy.

Personal factors associated with reported benefits of Huntington disease family history or genetic testing.

Carrier testing for spinal muscular atrophy.

Genetic screening in the Persian Jewish community: A pilot study.

Genetics and dysmorphology in clinical practice--the upscale frontier.

Genetic evaluation and counseling for epilepsy.

Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids.

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

Errors in delivery of cancer genetics services: implications for practice.

What do patients with hereditary deafness think of genetic studies?

African Americans' responses to genetic explanations of lung cancer disparities and their willingness to participate in clinical genetics research.

Education may improve the underutilization of genetic services by Middle Eastern primary care practitioners.

Umbilical artery aneurysm.

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.

What can we expect from invasive procedures in 10 years time?