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American Journal of Medical Genetics. Part A
|
September 25, 2020
Extremity anomalies associated with Robinow syndrome
Amjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.
The Journal of Pediatrics
|
November 26, 2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
Lindsay C Burrage, Marcus J Miller, Lee-Jun Wong, et al.
Prenatal Diagnosis
|
November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis
Catherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.
Orphanet Journal of Rare Diseases
|
January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
Laura L Tosi, Marianne K Floor, Christina M Dollar, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2008
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
Oleg A Shchelochkov, Ankita Patel, George M Weissenberger, et al.
Journal of Clinical Psychology in Medical Settings
|
August 14, 2025
Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta
Amena Sediqi, Roya Al-Khalili, Saunya Dover, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2020
Craniofacial phenotypes associated with Robinow syndrome
Christopher J Conlon, Amjed Abu-Ghname, Anjali C Raghuram, et al.
Science (New York, N.Y.)
|
November 13, 2010
Environment and development. Earth system science for global sustainability: grand challenges
W V Reid, D Chen, L Goldfarb, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
Nishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
Seizure
|
October 2, 2007
A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesis
J C S Dean, Z Robertson, V Reid, et al.
Page
of 28
Search research articles
Search
Showing results (151-160 of 276) with videos related to
Sort By:
Page
of 28
American Journal of Medical Genetics. Part A
|
September 25, 2020
Extremity anomalies associated with Robinow syndrome
Amjed Abu-Ghname, Jeffrey Trost, Matthew J Davis, et al.
The Journal of Pediatrics
|
November 26, 2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
Lindsay C Burrage, Marcus J Miller, Lee-Jun Wong, et al.
Prenatal Diagnosis
|
November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis
Catherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.
Orphanet Journal of Rare Diseases
|
January 31, 2019
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
Laura L Tosi, Marianne K Floor, Christina M Dollar, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2008
Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
Oleg A Shchelochkov, Ankita Patel, George M Weissenberger, et al.
Journal of Clinical Psychology in Medical Settings
|
August 14, 2025
Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta
Amena Sediqi, Roya Al-Khalili, Saunya Dover, et al.
American Journal of Medical Genetics. Part A
|
November 25, 2020
Craniofacial phenotypes associated with Robinow syndrome
Christopher J Conlon, Amjed Abu-Ghname, Anjali C Raghuram, et al.
Science (New York, N.Y.)
|
November 13, 2010
Environment and development. Earth system science for global sustainability: grand challenges
W V Reid, D Chen, L Goldfarb, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
Nishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
Seizure
|
October 2, 2007
A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesis
J C S Dean, Z Robertson, V Reid, et al.
Page
of 28