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Cynthia S Gubbels

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Obstetrical & Gynecological Survey|April 19, 2008
Fertility and impact of pregnancies on the mother and child in classic galactosemiaCynthia S Gubbels, Jolande A Land, M Estela Rubio-Gozalbo
Journal of Child Neurology|May 27, 2017
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel VariantSiddharth Srivastava, Cynthia S Gubbels, Kira Dies, et al.
Molecular Genetics and Metabolism|August 15, 2021
Transient developmental delays in infants with Duarte-2 variant galactosemiaSusan E Waisbren, Catherine Tran, Didem Demirbas, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Ovarian function in girls and women with GALT-deficiency galactosemiaJudith L Fridovich-Keil, Cynthia S Gubbels, Jessica B Spencer, et al.
Journal of Inherited Metabolic Disease|June 26, 2012
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesionCynthia S Gubbels, Jolande A Land, Johannes L H Evers, et al.
Journal of Inherited Metabolic Disease|September 4, 2010
FSH isoform pattern in classic galactosemiaCynthia S Gubbels, Chris M G Thomas, Will K W H Wodzig, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Journal of Inherited Metabolic Disease|October 12, 2012
The male reproductive system in classic galactosemia: cryptorchidism and low semen volumeCynthia S Gubbels, Corrine K Welt, John C M Dumoulin, et al.
Familial Cancer|March 18, 2014
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot studyMargot M Koeneman, Arnold-Jan Kruse, Simone J S Sep, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Obstetrical & Gynecological Survey|April 19, 2008
Fertility and impact of pregnancies on the mother and child in classic galactosemiaCynthia S Gubbels, Jolande A Land, M Estela Rubio-Gozalbo
Journal of Child Neurology|May 27, 2017
Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel VariantSiddharth Srivastava, Cynthia S Gubbels, Kira Dies, et al.
Molecular Genetics and Metabolism|August 15, 2021
Transient developmental delays in infants with Duarte-2 variant galactosemiaSusan E Waisbren, Catherine Tran, Didem Demirbas, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Ovarian function in girls and women with GALT-deficiency galactosemiaJudith L Fridovich-Keil, Cynthia S Gubbels, Jessica B Spencer, et al.
Journal of Inherited Metabolic Disease|June 26, 2012
Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesionCynthia S Gubbels, Jolande A Land, Johannes L H Evers, et al.
Journal of Inherited Metabolic Disease|September 4, 2010
FSH isoform pattern in classic galactosemiaCynthia S Gubbels, Chris M G Thomas, Will K W H Wodzig, et al.
Molecular Genetics and Metabolism|February 6, 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiencyDidem Demirbas, Xiaoping Huang, Vikram Daesety, et al.
Journal of Inherited Metabolic Disease|October 12, 2012
The male reproductive system in classic galactosemia: cryptorchidism and low semen volumeCynthia S Gubbels, Corrine K Welt, John C M Dumoulin, et al.
Familial Cancer|March 18, 2014
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot studyMargot M Koeneman, Arnold-Jan Kruse, Simone J S Sep, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
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