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Anne M Slavotinek

Showing results (51-60 of 93) with videos related to

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Human Genetics|December 22, 2009
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragmNelson LopezJimenez, Simon Gerber, Vlad Popovici, et al.
BMC Medical Genetics|December 30, 2011
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, et al.
Plos One|August 23, 2017
Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataractDebbie S Kuo, Jared T Sokol, Peter J Minogue, et al.
American Journal of Medical Genetics. Part A|February 7, 2014
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomaliesHeather H Pua, Swetha Krishnamurthi, Jessica Farrell, et al.
Retinal Cases & Brief Reports|August 4, 2018
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCYMariana A Flores Pimentel, Irina De la Huerta, Jacque L Duncan, et al.
American Journal of Medical Genetics. Part A|April 12, 2011
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformationAnne M Slavotinek, Jill A Rosenfeld, Ryan Chao, et al.
Journal of Pregnancy|April 20, 2016
Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic PurpuraDiego F Wyszynski, Wendy J Carman, Alan B Cantor, et al.
American Journal of Medical Genetics. Part A|April 20, 2022
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papillomaEmily W Modlin, Anne M Slavotinek, Thomas N Darling, et al.
The Laryngoscope|October 28, 2020
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher SyndromeKara D Brodie, Anthony T Moore, Anne M Slavotinek, et al.
European Journal of Human Genetics : EJHG|June 1, 2006
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2Anne M Slavotinek, Ali Moshrefi, Randy Davis, et al.
Pageof 10

Showing results (51-60 of 93) with videos related to

Sort By:
Pageof 10
Human Genetics|December 22, 2009
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragmNelson LopezJimenez, Simon Gerber, Vlad Popovici, et al.
BMC Medical Genetics|December 30, 2011
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, et al.
Plos One|August 23, 2017
Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataractDebbie S Kuo, Jared T Sokol, Peter J Minogue, et al.
American Journal of Medical Genetics. Part A|February 7, 2014
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomaliesHeather H Pua, Swetha Krishnamurthi, Jessica Farrell, et al.
Retinal Cases & Brief Reports|August 4, 2018
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCYMariana A Flores Pimentel, Irina De la Huerta, Jacque L Duncan, et al.
American Journal of Medical Genetics. Part A|April 12, 2011
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformationAnne M Slavotinek, Jill A Rosenfeld, Ryan Chao, et al.
Journal of Pregnancy|April 20, 2016
Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic PurpuraDiego F Wyszynski, Wendy J Carman, Alan B Cantor, et al.
American Journal of Medical Genetics. Part A|April 20, 2022
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papillomaEmily W Modlin, Anne M Slavotinek, Thomas N Darling, et al.
The Laryngoscope|October 28, 2020
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher SyndromeKara D Brodie, Anthony T Moore, Anne M Slavotinek, et al.
European Journal of Human Genetics : EJHG|June 1, 2006
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2Anne M Slavotinek, Ali Moshrefi, Randy Davis, et al.
Pageof 10