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American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 1998
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
J D Cogan, W Wu, J A Phillips, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 19, 2005
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension
Joy D Cogan, Cindy L Vnencak-Jones, John A Phillips, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Respiratory and Critical Care Medicine
|
August 29, 2022
Peripheral Blood Telomere Attrition in Persons at Risk for Familial Pulmonary Fibrosis
Margaret L Salisbury, Cheryl R Markin, Pingsheng Wu, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemia
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
American Journal of Respiratory and Critical Care Medicine
|
April 18, 2017
Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families
Jonathan A Kropski, Sara Reiss, Cheryl Markin, et al.
The European Respiratory Journal
|
April 10, 2009
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
E D Austin, J D Cogan, J D West, et al.
Clinical Endocrinology
|
December 18, 2003
Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism
John K Park, Metin Ozata, Lynn P Chorich, et al.
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of 11
Search research articles
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Showing results (51-60 of 103) with videos related to
Sort By:
Page
of 11
American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 1998
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
J D Cogan, W Wu, J A Phillips, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 19, 2005
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension
Joy D Cogan, Cindy L Vnencak-Jones, John A Phillips, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Respiratory and Critical Care Medicine
|
August 29, 2022
Peripheral Blood Telomere Attrition in Persons at Risk for Familial Pulmonary Fibrosis
Margaret L Salisbury, Cheryl R Markin, Pingsheng Wu, et al.
American Journal of Medical Genetics. Part A
|
October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemia
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
Kimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
American Journal of Respiratory and Critical Care Medicine
|
April 18, 2017
Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families
Jonathan A Kropski, Sara Reiss, Cheryl Markin, et al.
The European Respiratory Journal
|
April 10, 2009
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
E D Austin, J D Cogan, J D West, et al.
Clinical Endocrinology
|
December 18, 2003
Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism
John K Park, Metin Ozata, Lynn P Chorich, et al.
Page
of 11