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American Journal of Medical Genetics. Part A
|
November 20, 2023
Ophthalmic manifestations of Czech dysplasia
Zack Soh, Howard Martin, Allan J Richards, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Jane C Ravenscroft, Mohnish Suri, Gillian I Rice, et al.
Clinical Dysmorphology
|
September 15, 2004
Congenital cardiac disease as a core feature of cranio-osteoarthropathy
Susan O'Connell, Mohnish Suri, Desmond Duff, et al.
Journal of the Neurological Sciences
|
May 18, 2007
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis
Ashok Raman, Xia Lin, Mohnish Suri, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Asplenia in ATR-X syndrome: a second report
Ronan T Leahy, Roy K Philip, Richard J Gibbons, et al.
Pediatric Radiology
|
May 19, 2004
Central osteosclerosis with trichothiodystrophy
Emma L Wakeling, Michele Cruwys, Mohnish Suri, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey
Neel Kothari, Nora Shannon, Bara Erhayiem, et al.
Developmental Medicine and Child Neurology
|
February 21, 2016
Longitudinal analysis of the neurological features of ataxia-telangiectasia
Thomas J Jackson, Gabriel Chow, Mohnish Suri, et al.
European Journal of Medical Genetics
|
August 2, 2022
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
Gabriela Jones, Katie Johnson, Jacqueline Eason, et al.
Clinical Dysmorphology
|
May 22, 2012
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype
Gabriela E Fuchs, Mohnish Suri, Anthony Dux, et al.
Page
of 13
Search research articles
Search
Showing results (21-30 of 123) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
November 20, 2023
Ophthalmic manifestations of Czech dysplasia
Zack Soh, Howard Martin, Allan J Richards, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Jane C Ravenscroft, Mohnish Suri, Gillian I Rice, et al.
Clinical Dysmorphology
|
September 15, 2004
Congenital cardiac disease as a core feature of cranio-osteoarthropathy
Susan O'Connell, Mohnish Suri, Desmond Duff, et al.
Journal of the Neurological Sciences
|
May 18, 2007
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis
Ashok Raman, Xia Lin, Mohnish Suri, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2005
Asplenia in ATR-X syndrome: a second report
Ronan T Leahy, Roy K Philip, Richard J Gibbons, et al.
Pediatric Radiology
|
May 19, 2004
Central osteosclerosis with trichothiodystrophy
Emma L Wakeling, Michele Cruwys, Mohnish Suri, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2026
Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey
Neel Kothari, Nora Shannon, Bara Erhayiem, et al.
Developmental Medicine and Child Neurology
|
February 21, 2016
Longitudinal analysis of the neurological features of ataxia-telangiectasia
Thomas J Jackson, Gabriel Chow, Mohnish Suri, et al.
European Journal of Medical Genetics
|
August 2, 2022
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
Gabriela Jones, Katie Johnson, Jacqueline Eason, et al.
Clinical Dysmorphology
|
May 22, 2012
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype
Gabriela E Fuchs, Mohnish Suri, Anthony Dux, et al.
Page
of 13