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Clinical Case Reports
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December 20, 2018
Novel metabolic signatures of compound heterozygous <i>Szt2</i> variants in a case of early-onset of epileptic encephalopathy
Martine Uittenbogaard, Andrea Gropman, Christine A Brantner, et al.
Current Treatment Options in Neurology
|
April 5, 2014
Treatment of mitochondrial disorders
Sreenivas Avula, Sumit Parikh, Scott Demarest, et al.
Pediatric Neurology
|
August 19, 2017
Black Toenail Sign in MELAS Syndrome
Matthew T Whitehead, Michael Wien, Bonmyong Lee, et al.
Frontiers in Endocrinology
|
December 12, 2025
Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY
Elizabeth Moser, Margaret Olaya, Andrea Gropman, et al.
American Journal of Medical Genetics. Part A
|
January 15, 2019
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy
Carole Samango-Sprouse, Patricia Lasutschinkow, Sherida Powell, et al.
Molecular Genetics and Metabolism
|
January 19, 2020
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency
Afrouz Anderson, Andrea Gropman, Cynthia Le Mons, et al.
Analytical Biochemistry
|
October 12, 2021
Fifteen years of urea cycle disorders brain research: Looking back, looking forward
Kuntal Sen, Matthew Whitehead, Carlos Castillo Pinto, et al.
American Journal of Medical Genetics. Part A
|
June 19, 2015
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX
Carole Samango-Sprouse, Colleen Keen, Francie Mitchell, et al.
Seminars in Pediatric Neurology
|
July 3, 2018
A Newborn With Hyperlactatemia and Epileptic Encephalopathy
Rawad Obeid, Yoshimi Sogawa, Monica Naik, et al.
Birth Defects Research
|
March 13, 2025
Assessing Environmental Justice in Mexico: How Polluting Industries and Healthcare Disparities Impact Congenital Heart Defects
Maria Jose Talayero, Carlos Santos-Burgoa, Jordan Kuiper, et al.
Page
of 9
Search research articles
Search
Showing results (11-20 of 86) with videos related to
Sort By:
Page
of 9
Clinical Case Reports
|
December 20, 2018
Novel metabolic signatures of compound heterozygous <i>Szt2</i> variants in a case of early-onset of epileptic encephalopathy
Martine Uittenbogaard, Andrea Gropman, Christine A Brantner, et al.
Current Treatment Options in Neurology
|
April 5, 2014
Treatment of mitochondrial disorders
Sreenivas Avula, Sumit Parikh, Scott Demarest, et al.
Pediatric Neurology
|
August 19, 2017
Black Toenail Sign in MELAS Syndrome
Matthew T Whitehead, Michael Wien, Bonmyong Lee, et al.
Frontiers in Endocrinology
|
December 12, 2025
Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY
Elizabeth Moser, Margaret Olaya, Andrea Gropman, et al.
American Journal of Medical Genetics. Part A
|
January 15, 2019
The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy
Carole Samango-Sprouse, Patricia Lasutschinkow, Sherida Powell, et al.
Molecular Genetics and Metabolism
|
January 19, 2020
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency
Afrouz Anderson, Andrea Gropman, Cynthia Le Mons, et al.
Analytical Biochemistry
|
October 12, 2021
Fifteen years of urea cycle disorders brain research: Looking back, looking forward
Kuntal Sen, Matthew Whitehead, Carlos Castillo Pinto, et al.
American Journal of Medical Genetics. Part A
|
June 19, 2015
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX
Carole Samango-Sprouse, Colleen Keen, Francie Mitchell, et al.
Seminars in Pediatric Neurology
|
July 3, 2018
A Newborn With Hyperlactatemia and Epileptic Encephalopathy
Rawad Obeid, Yoshimi Sogawa, Monica Naik, et al.
Birth Defects Research
|
March 13, 2025
Assessing Environmental Justice in Mexico: How Polluting Industries and Healthcare Disparities Impact Congenital Heart Defects
Maria Jose Talayero, Carlos Santos-Burgoa, Jordan Kuiper, et al.
Page
of 9