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JIMD Reports
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February 11, 2015
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding
Hayato Tada, Masa-Aki Kawashiri, Mutsuko Takata, et al.
Medicine
|
September 11, 2024
An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report
Satoru Hasuike, Yoshinori Ozono, Keisuke Uchida, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 5, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients
Maki Fukami, Gen Nishimura, Keiko Homma, et al.
Biochemistry and Biophysics Reports
|
April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses
Wataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
American Journal of Human Genetics
|
December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
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Search research articles
Search
Showing results (21-30 of 26) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 26 results.
JIMD Reports
|
February 11, 2015
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding
Hayato Tada, Masa-Aki Kawashiri, Mutsuko Takata, et al.
Medicine
|
September 11, 2024
An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report
Satoru Hasuike, Yoshinori Ozono, Keisuke Uchida, et al.
American Journal of Human Genetics
|
June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 5, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients
Maki Fukami, Gen Nishimura, Keiko Homma, et al.
Biochemistry and Biophysics Reports
|
April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses
Wataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.
American Journal of Human Genetics
|
December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
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of 3