Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.
about
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenanceRoutes for breaching and protecting genetic privacyThe use of genealogy databases for risk assessment in genetic health service: a systematic reviewEthical and methodological issues in pedigree stroke research.Helium: visualization of large scale plant pedigrees.Browsing isolated population dataPediDraw: a web-based tool for drawing a pedigree in genetic counseling.Family history in primary care pediatrics.Population-based proband-oriented pedigree information system: application to hypertension with population-based screening data (KCIS No. 25).Sex symbols ancient and modern: their origins and iconography on the pedigree.VIPER: a visualisation tool for exploring inheritance inconsistencies in genotyped pedigrees.Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysisMolecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.Using a family history intervention to improve cancer risk perception in a black community.Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.Neurogenetics: single gene disorders.Validation of My Family Health Portrait for six common heritable conditions.The family medical history as a tool in preconception consultation.Genetic counselors: translating genomic science into clinical practiceThe family history: reemergence of an established tool.Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.The family history: An integral component of paediatric health assessment.pedigreejs: a web-based graphical pedigree editor.Standardized pedigree nomenclature.Defining "proband".First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.
P2860
Q24625735-5B0A4A29-5FEB-4F59-AFA2-67FD5269A858Q28656170-14CAFCFF-D870-4E77-A345-0196580194FBQ28710090-935E3D45-1D36-418E-AB2A-5974C5501D75Q30440503-E795CDC7-BBEA-41FC-99AE-107173F49A04Q30840193-310E2DCA-2DFB-4D39-BDF6-CA1633C07602Q31025915-3363B1BF-3DC1-4E79-85A6-06726E87E0B5Q33287065-87534FD3-86DF-42E1-8292-2F1DA81A73BCQ33821491-02C1870F-B632-414A-BDE8-54B0950EACAAQ33950305-055E02EB-CE02-459A-9E31-298F3E93A186Q34243529-EE966D95-71BA-4D78-BDCE-8185915A83F8Q34274563-C3CF1915-D631-4FAD-BBFE-774DCA5D2A4AQ34567091-AF7FEC5A-692B-422F-8207-985A85FA6E97Q34896452-9AE09504-35B5-473D-8B57-F71CE05BEAE3Q35033429-13B8BBBB-9F85-49D1-8100-214407899B72Q35104077-9AB570FD-0BDB-40BF-BFE7-FCC6FE639EFBQ35125692-86DD8945-CFCF-4C6C-9E39-D6C33A52A65EQ35560289-B1223033-410B-4AAD-AE10-E7718B62418CQ35673555-18317DB1-F964-4A57-9C5B-C7638FC7D655Q36164716-9EA0A9F4-2132-4AEE-A45A-39BE050C9A3EQ36524819-D8EF1DDC-EAA7-4E75-A92F-3E66C48E0C06Q36663468-446EE211-1FA6-4A60-BB39-CBDD35867921Q36843211-D88A4EEA-C5BB-4D18-9867-5B9469ABBB14Q37388144-9BC1EFD7-881A-4AB9-B170-3488DF6EFB39Q37454102-49110474-5CD5-4E51-A48E-02B38F5C34A2Q42095257-72F0F047-F591-41D2-936C-1FF593FCCBB7Q42695202-B4947F21-EA76-4B49-81E8-3898A2B38C57Q42950889-DA81C3C2-6E08-4FD5-B526-E873D79BE9B7Q42950895-50A71E13-CAB8-45B0-B14F-E5FBB3A1F7F7Q55346937-4DDC2D20-38AE-400D-8EB3-666211CC2BF4
P2860
Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Recommendations for standardiz ...... Society of Genetic Counselors.
@ast
Recommendations for standardiz ...... Society of Genetic Counselors.
@en
type
label
Recommendations for standardiz ...... Society of Genetic Counselors.
@ast
Recommendations for standardiz ...... Society of Genetic Counselors.
@en
prefLabel
Recommendations for standardiz ...... Society of Genetic Counselors.
@ast
Recommendations for standardiz ...... Society of Genetic Counselors.
@en
P2093
P1476
Recommendations for standardiz ...... Society of Genetic Counselors
@en
P2093
C K O'Sullivan
D Lochner-Doyle
D S Markel
J Hamanishi
K A Steinhaus
R L Bennett
S B Uhrich
P304
P407
P577
1995-03-01T00:00:00Z