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Annual Review of Genomics and Human Genetics
|
May 19, 2020
Genomically Aided Diagnosis of Severe Developmental Disorders
David R FitzPatrick, Helen V Firth
Developmental Medicine and Child Neurology
|
June 18, 2011
The Deciphering Developmental Disorders (DDD) study
Helen V Firth, Caroline F Wright,
Seminars in Fetal & Neonatal Medicine
|
May 10, 2005
Skeletal dysplasias
Jane A Hurst, Helen V Firth, Sarah Smithson
Prenatal Diagnosis
|
July 18, 2008
Syndromic associations with congenital anomalies of the fetal thorax and abdomen
Jane Hurst, Helen V Firth, Lyn S Chitty
Nature Reviews. Genetics
|
February 6, 2018
Paediatric genomics: diagnosing rare disease in children
Caroline F Wright, David R FitzPatrick, Helen V Firth
Nature Reviews. Genetics
|
February 20, 2018
Paediatric genomics: diagnosing rare disease in children
Caroline F Wright, David R FitzPatrick, Helen V Firth
Nature Reviews. Genetics
|
November 24, 2015
Principle of proportionality in genomic data sharing
Caroline F Wright, Matthew E Hurles, Helen V Firth
Prenatal Diagnosis
|
December 23, 2004
Fetal cardiac anomalies and genetic syndromes
Eva Pajkrt, Boaz Weisz, Helen V Firth, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
Soo-Mi Park, Christine M Hall, Roger Gray, et al.
Current Protocols in Human Genetics
|
January 14, 2012
Interpretation of genomic copy number variants using DECIPHER
Manuel Corpas, Eugene Bragin, Stephen Clayton, et al.
Page
of 12
Search research articles
Search
Showing results (1-10 of 116) with videos related to
Sort By:
Page
of 12
Annual Review of Genomics and Human Genetics
|
May 19, 2020
Genomically Aided Diagnosis of Severe Developmental Disorders
David R FitzPatrick, Helen V Firth
Developmental Medicine and Child Neurology
|
June 18, 2011
The Deciphering Developmental Disorders (DDD) study
Helen V Firth, Caroline F Wright,
Seminars in Fetal & Neonatal Medicine
|
May 10, 2005
Skeletal dysplasias
Jane A Hurst, Helen V Firth, Sarah Smithson
Prenatal Diagnosis
|
July 18, 2008
Syndromic associations with congenital anomalies of the fetal thorax and abdomen
Jane Hurst, Helen V Firth, Lyn S Chitty
Nature Reviews. Genetics
|
February 6, 2018
Paediatric genomics: diagnosing rare disease in children
Caroline F Wright, David R FitzPatrick, Helen V Firth
Nature Reviews. Genetics
|
February 20, 2018
Paediatric genomics: diagnosing rare disease in children
Caroline F Wright, David R FitzPatrick, Helen V Firth
Nature Reviews. Genetics
|
November 24, 2015
Principle of proportionality in genomic data sharing
Caroline F Wright, Matthew E Hurles, Helen V Firth
Prenatal Diagnosis
|
December 23, 2004
Fetal cardiac anomalies and genetic syndromes
Eva Pajkrt, Boaz Weisz, Helen V Firth, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
Soo-Mi Park, Christine M Hall, Roger Gray, et al.
Current Protocols in Human Genetics
|
January 14, 2012
Interpretation of genomic copy number variants using DECIPHER
Manuel Corpas, Eugene Bragin, Stephen Clayton, et al.
Page
of 12