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Journal of Inherited Metabolic Disease
|
January 1, 1984
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin
M L Batshaw, G H Thomas, S R Cohen, et al.
JAMA
|
August 12, 1974
Tuberculosis in dialyzed patients
R P Pradhan, L A Katz, B D Nidus, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
Journal of Investigative Medicine High Impact Case Reports
|
May 31, 2022
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
Christina G Tise, Dena R Matalon, Melanie A Manning, et al.
Biochemical Medicine and Metabolic Biology
|
August 1, 1992
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity
P S Hart, B O Barnstein, J R Secor McVoy, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1973
Cystic fibrosis: fractionation of fibroblast media demonstrating ciliary inhibition
B H Bowman, D R Barnett, R Matalon, et al.
Human Mutation
|
January 1, 1995
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease
R Kaul, G P Gao, K Michals, et al.
The New England Journal of Medicine
|
December 30, 1971
Functional aortic insufficiency. A feature of renal failure
R Matalon, A R Moussalli, B D Nidus, et al.
American Journal of Human Genetics
|
November 1, 1975
Kniest syndrome with dominant inheritance and mucopolysacchariduria
H J Kim, N G Beratis, P Brill, et al.
European Journal of Pediatrics
|
May 1, 1982
Spontaneous chylothorax in Noonan's syndrome
E Fisher, E B Weiss, K Michals, et al.
Page
of 19
Search research articles
Search
Showing results (101-110 of 185) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
January 1, 1984
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin
M L Batshaw, G H Thomas, S R Cohen, et al.
JAMA
|
August 12, 1974
Tuberculosis in dialyzed patients
R P Pradhan, L A Katz, B D Nidus, et al.
Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
Journal of Investigative Medicine High Impact Case Reports
|
May 31, 2022
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
Christina G Tise, Dena R Matalon, Melanie A Manning, et al.
Biochemical Medicine and Metabolic Biology
|
August 1, 1992
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity
P S Hart, B O Barnstein, J R Secor McVoy, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1973
Cystic fibrosis: fractionation of fibroblast media demonstrating ciliary inhibition
B H Bowman, D R Barnett, R Matalon, et al.
Human Mutation
|
January 1, 1995
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease
R Kaul, G P Gao, K Michals, et al.
The New England Journal of Medicine
|
December 30, 1971
Functional aortic insufficiency. A feature of renal failure
R Matalon, A R Moussalli, B D Nidus, et al.
American Journal of Human Genetics
|
November 1, 1975
Kniest syndrome with dominant inheritance and mucopolysacchariduria
H J Kim, N G Beratis, P Brill, et al.
European Journal of Pediatrics
|
May 1, 1982
Spontaneous chylothorax in Noonan's syndrome
E Fisher, E B Weiss, K Michals, et al.
Page
of 19