Search research articles
Contact Us
Filters
Showing results (121-130 of 185) with videos related to
Page
of 19
Sort By:
Pediatrics
|
December 1, 1984
Biopterin synthesis defects: problems in diagnosis
G Hoganson, S Berlow, S Kaufman, et al.
The Journal of Pediatrics
|
January 1, 1984
Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid
R Matalon, D A Stumpf, K Michals, et al.
Neoreviews
|
October 31, 2025
Prenatal Diagnosis of a Large Lymphovascular Malformation
Ritu Chitkara, Joyce Teng, Erika Rubesova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 6, 2024
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)
Laurie H Seaver, Perry Chan, Lynn D Fleisher, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant
Jose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Neoreviews
|
October 31, 2024
Pallister-Killian Syndrome
Ritu Chitkara, Valerie Chock, Richard Barth, et al.
The Journal of Pediatrics
|
January 15, 2000
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes
B Rouse, R Matalon, R Koch, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada
R Koch, W Hanley, H Levy, et al.
European Journal of Pediatrics
|
July 1, 1996
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report
W B Hanley, R Koch, H L Levy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2022
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
Laurie H Seaver, George Khushf, Nancy M P King, et al.
Page
of 19
Search research articles
Search
Showing results (121-130 of 185) with videos related to
Sort By:
Page
of 19
Pediatrics
|
December 1, 1984
Biopterin synthesis defects: problems in diagnosis
G Hoganson, S Berlow, S Kaufman, et al.
The Journal of Pediatrics
|
January 1, 1984
Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid
R Matalon, D A Stumpf, K Michals, et al.
Neoreviews
|
October 31, 2025
Prenatal Diagnosis of a Large Lymphovascular Malformation
Ritu Chitkara, Joyce Teng, Erika Rubesova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 6, 2024
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)
Laurie H Seaver, Perry Chan, Lynn D Fleisher, et al.
American Journal of Medical Genetics. Part A
|
January 12, 2022
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant
Jose Andres Morales, Irene Valenzuela, Ivon Cuscó, et al.
Neoreviews
|
October 31, 2024
Pallister-Killian Syndrome
Ritu Chitkara, Valerie Chock, Richard Barth, et al.
The Journal of Pediatrics
|
January 15, 2000
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes
B Rouse, R Matalon, R Koch, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada
R Koch, W Hanley, H Levy, et al.
European Journal of Pediatrics
|
July 1, 1996
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report
W B Hanley, R Koch, H L Levy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2022
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
Laurie H Seaver, George Khushf, Nancy M P King, et al.
Page
of 19