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Journal of Pediatric Orthopedics
|
January 13, 2018
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series
Molly M Crenshaw, Cara G Goerlich, Lauren E Ivey, et al.
Annals of the American Thoracic Society
|
July 15, 2022
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial
Kim M Keppler-Noreuil, Jasmine Burton-Akright, David E Kleiner, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2022
Elements of morphology: Standard terminology for the trunk and limbs
Leslie G Biesecker, Margaret P Adam, Brian Hon-Yin Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Compound heterozygous alterations in intraflagellar transport protein <i>CLUAP1</i> in a child with a novel Joubert and oral-facial-digital overlap syndrome
Jennifer J Johnston, Chanjae Lee, Ingrid M Wentzensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2014
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait
W Gregory Feero, Flavia M Facio, Emily A Glogowski, et al.
Clinical Genetics
|
December 8, 2016
PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing
B B Biesecker, S W Woolford, W M P Klein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
Jennifer J Johnston, Marie-Luise Brennan, Bailey Radenbaugh, et al.
Plos One
|
April 26, 2017
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model
Xuan Yuan, Zhe Li, Andrea C Baines, et al.
Clinical Genetics
|
April 15, 2018
Correction to: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing
B B Biesecker, S W Woolford, W M P Klein, et al.
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Search research articles
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Showing results (311-320 of 475) with videos related to
Sort By:
Page
of 48
Journal of Pediatric Orthopedics
|
January 13, 2018
Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series
Molly M Crenshaw, Cara G Goerlich, Lauren E Ivey, et al.
Annals of the American Thoracic Society
|
July 15, 2022
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial
Kim M Keppler-Noreuil, Jasmine Burton-Akright, David E Kleiner, et al.
American Journal of Medical Genetics. Part A
|
September 5, 2022
Elements of morphology: Standard terminology for the trunk and limbs
Leslie G Biesecker, Margaret P Adam, Brian Hon-Yin Chung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Cold Spring Harbor Molecular Case Studies
|
July 7, 2017
Compound heterozygous alterations in intraflagellar transport protein <i>CLUAP1</i> in a child with a novel Joubert and oral-facial-digital overlap syndrome
Jennifer J Johnston, Chanjae Lee, Ingrid M Wentzensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 19, 2014
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait
W Gregory Feero, Flavia M Facio, Emily A Glogowski, et al.
Clinical Genetics
|
December 8, 2016
PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing
B B Biesecker, S W Woolford, W M P Klein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
Jennifer J Johnston, Marie-Luise Brennan, Bailey Radenbaugh, et al.
Plos One
|
April 26, 2017
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model
Xuan Yuan, Zhe Li, Andrea C Baines, et al.
Clinical Genetics
|
April 15, 2018
Correction to: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing
B B Biesecker, S W Woolford, W M P Klein, et al.
Page
of 48