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Clinical Case Reports
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January 30, 2018
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature
John Paul Schacht, Elisha Farnworth, Jacob Hogue, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2010
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
Jacob Hogue, Suma Shankar, Hazel Perry, et al.
Journal of Pediatric Surgery
|
October 23, 2012
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin
Eveline H Shue, Bruno Soares, Jesse Courtier, et al.
The Journal of Craniofacial Surgery
|
September 22, 2010
Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization
Angie Jelin, Hazel Perry, Jacob Hogue, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
Ben C Li, Jacob Hogue, Meg Eilers, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2016
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2013
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
Kyle B Jones, Alice F Goodwin, Maya Landan, et al.
Journal of Medical Genetics
|
April 29, 2011
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
Margaret J Wat, Danielle Veenma, Jacob Hogue, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Clinical Case Reports
|
January 30, 2018
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature
John Paul Schacht, Elisha Farnworth, Jacob Hogue, et al.
American Journal of Medical Genetics. Part A
|
August 25, 2010
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
Jacob Hogue, Suma Shankar, Hazel Perry, et al.
Journal of Pediatric Surgery
|
October 23, 2012
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin
Eveline H Shue, Bruno Soares, Jesse Courtier, et al.
The Journal of Craniofacial Surgery
|
September 22, 2010
Clefting in trisomy 9p patients: genotype-phenotype correlation using microarray comparative genomic hybridization
Angie Jelin, Hazel Perry, Jacob Hogue, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
Ben C Li, Jacob Hogue, Meg Eilers, et al.
American Journal of Medical Genetics. Part A
|
May 6, 2016
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2013
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
Kyle B Jones, Alice F Goodwin, Maya Landan, et al.
Journal of Medical Genetics
|
April 29, 2011
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
Margaret J Wat, Danielle Veenma, Jacob Hogue, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Page
of 1