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Expert Review of Endocrinology & Metabolism
|
August 12, 2024
Progress in managing children with achondroplasia
Tashunka Taylor-Miller, Ravi Savarirayan
Best Practice & Research. Clinical Endocrinology & Metabolism
|
December 5, 2002
The skeletal dysplasias
Ravi Savarirayan, David L Rimoin
Human Mutation
|
February 12, 2016
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
Dylan A Mordaunt, Ravi Savarirayan
European Journal of Human Genetics : EJHG
|
August 27, 2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Ravi Savarirayan, Elizabeth Thompson, Jozef Gécz
The New England Journal of Medicine
|
September 26, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply
Ravi Savarirayan, Melita Irving, Jonathan Day
Journal of Paediatrics and Child Health
|
February 22, 2011
Clinical phenotypes associated with type II collagen mutations
Peter Kannu, John Bateman, Ravi Savarirayan
American Journal of Medical Genetics. Part A
|
March 18, 2009
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome
Alison Yeung, David Amor, Ravi Savarirayan
Clinical Dysmorphology
|
September 6, 2007
A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
Tiong Yang Tan, Charlotte Whitelaw, Ravi Savarirayan
Familial Cancer
|
August 16, 2015
Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned
Bich-Thu Duong, Ravi Savarirayan, Ingrid Winship
Pathology
|
March 17, 2007
Lethal metatropic dysplasia: a case report
Beena Kumar, Peter Kannu, Ravi Savarirayan, et al.
Page
of 19
Search research articles
Search
Showing results (11-20 of 186) with videos related to
Sort By:
Page
of 19
Expert Review of Endocrinology & Metabolism
|
August 12, 2024
Progress in managing children with achondroplasia
Tashunka Taylor-Miller, Ravi Savarirayan
Best Practice & Research. Clinical Endocrinology & Metabolism
|
December 5, 2002
The skeletal dysplasias
Ravi Savarirayan, David L Rimoin
Human Mutation
|
February 12, 2016
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
Dylan A Mordaunt, Ravi Savarirayan
European Journal of Human Genetics : EJHG
|
August 27, 2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Ravi Savarirayan, Elizabeth Thompson, Jozef Gécz
The New England Journal of Medicine
|
September 26, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply
Ravi Savarirayan, Melita Irving, Jonathan Day
Journal of Paediatrics and Child Health
|
February 22, 2011
Clinical phenotypes associated with type II collagen mutations
Peter Kannu, John Bateman, Ravi Savarirayan
American Journal of Medical Genetics. Part A
|
March 18, 2009
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome
Alison Yeung, David Amor, Ravi Savarirayan
Clinical Dysmorphology
|
September 6, 2007
A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
Tiong Yang Tan, Charlotte Whitelaw, Ravi Savarirayan
Familial Cancer
|
August 16, 2015
Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned
Bich-Thu Duong, Ravi Savarirayan, Ingrid Winship
Pathology
|
March 17, 2007
Lethal metatropic dysplasia: a case report
Beena Kumar, Peter Kannu, Ravi Savarirayan, et al.
Page
of 19