The effect of Mendelian disease on human health: a measurement.
about
"Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases NetworkGENETICS. The Human Variome ProjectComprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.Deep sequencing of patient genomes for disease diagnosis: when will it become routine?Fertility, reproduction, and genetic disease: studies on the mutagenic effects of environmental agents on mammalian germ cellsPhysiological genetics--who needs it?Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison.Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Genetics for the ophthalmologist.IQ and the genetics of autism.Recent advances of genomic testing in perinatal medicineCarrier testing for severe childhood recessive diseases by next-generation sequencingAdopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.Inherited metabolic disorders involving the eye: a clinico-biochemical perspective.Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.Sequencing-based diagnostics for pediatric genetic diseases: progress and potentialValidation of a multiplex genotyping platform using a novel genomic database approach.Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Cases are not incidence and vice versa.I. Feature article: Genetics for medical students.2001 ASHG Award for Excellence in Education. Introductory speech for Charles Scriver.Transcription factor genes and the developing eye: a genetic perspective.Realities and virtual realities of inborn errors of metabolism: biochemical genetics in the molecular genetic era.Evolutionary Nephrology.The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.An overview of concepts and approaches used in estimating the burden of congenital disorders globally.Heritable anomalies among the inhabitants of regions of normal and high background radiation in Kerala: results of a cohort study, 1988-1994.
P2860
Q27315546-A24224A7-657A-45AD-B1CE-E1F0124EE6B5Q33568260-4235CF47-2FB7-4F91-8EFA-DB1A14E511A7Q33608598-8AEE5923-6632-4B53-96A8-193A3916A797Q34370597-06E13D74-C979-48E8-8E6A-C8D95B5EFE73Q34691675-65D2A92C-B97E-4D52-8D83-A27C3C7F84A9Q34843393-D034BC88-BEDA-4F28-B079-67DAC533E2D2Q35198969-3F38F0DA-F7BE-4371-867F-1FAC88F10D9CQ35643100-45623C8D-B1EE-4C66-B5A6-E3893932FD40Q35907757-A6401D9B-348D-498F-A574-067589D5EEBEQ36615660-ECC80953-2B3E-41A8-82A8-C62ED5C211CFQ36794827-9840A883-2E4A-4FF2-9C97-C0F1B896DB5BQ36943811-5604DE3D-5040-4762-907D-2934F55A7294Q37086582-89EF3517-4416-4FE9-845F-B78EBE3CC0AEQ37086591-B0F6B61E-7D62-422E-9297-5E203992110CQ37607099-1ED4C7FB-D206-40CE-B27D-1D3A9E7DBC27Q37637598-4582E3F6-1264-4A79-91FD-61DCB5A656EAQ38263926-DDD415C8-6A59-4C49-B475-806B0F8E2B16Q38844223-71BFC2D9-6A6F-43EE-B35C-9F97BE434B1FQ38979492-179C7317-016D-4AB8-8815-CD5F84560862Q39123382-82238FDE-B217-46F0-91E0-1498BDA61340Q39551802-19606D9B-A0F3-42B3-9FA0-4F38D10A754EQ40600693-83CC7FF3-18B8-4423-92B5-F8F37AA9836AQ40902217-0AA4B716-CA81-4F5A-B465-808DCBD5F33FQ41170335-758DBE2C-1F53-4666-82AE-B778A86AF025Q41380113-2BEC6D12-361A-4F26-9CD9-8C9BE0472EA0Q43573882-71D75135-B3C1-440F-8E31-86AD0387E0FEQ45225641-56A1A831-1313-4373-9487-11C247362F0DQ46302206-E5B94DBF-93D0-4FC7-9486-17B3929398BCQ50793889-565951BC-0198-45AD-9BAE-CCB8F22A534A
P2860
The effect of Mendelian disease on human health: a measurement.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh-hant
name
The effect of Mendelian disease on human health: a measurement.
@en
The effect of Mendelian disease on human health: a measurement.
@nl
type
label
The effect of Mendelian disease on human health: a measurement.
@en
The effect of Mendelian disease on human health: a measurement.
@nl
prefLabel
The effect of Mendelian disease on human health: a measurement.
@en
The effect of Mendelian disease on human health: a measurement.
@nl
P356
P1476
The effect of Mendelian disease on human health: a measurement.
@en
P2093
P304
P356
10.1002/AJMG.1320210205
P577
1985-06-01T00:00:00Z