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Geroscience
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February 25, 2021
Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification
Angela E Lin, Nicola Brunetti-Pierri, Bert Callewaert, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2023
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1)
Sreedhara Sangadala, Eileen M Shore, Meiqi Xu, et al.
Hypertension (Dallas, Tex. : 1979)
|
April 5, 2017
Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study
Sarah C Fisher, Alissa R Van Zutphen, Martha M Werler, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
Sonali S Patel, Trudy L Burns, Lorenzo D Botto, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2022
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes
Gregory M Gheewalla, Jay Luther, Saumya Das, et al.
Hormone Research in Paediatrics
|
September 30, 2019
Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic
Rabab Z Jafri, Erin A McNamara, Emma A Snyder, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 16, 2002
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force
J M Friedman, Jack Arbiser, Jonathan A Epstein, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2009
Living with Costello syndrome: quality of life issues in older individuals
Elizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Ophthalmic Genetics
|
July 14, 2022
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Sandra Hoyek, Marlene Wang, Audina M Berrocal, et al.
Birth Defects Research
|
June 22, 2017
Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births
Rebecca F Liberman, Kelly D Getz, Dominique Heinke, et al.
Page
of 17
Search research articles
Search
Showing results (71-80 of 170) with videos related to
Sort By:
Page
of 17
Geroscience
|
February 25, 2021
Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification
Angela E Lin, Nicola Brunetti-Pierri, Bert Callewaert, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2023
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1)
Sreedhara Sangadala, Eileen M Shore, Meiqi Xu, et al.
Hypertension (Dallas, Tex. : 1979)
|
April 5, 2017
Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study
Sarah C Fisher, Alissa R Van Zutphen, Martha M Werler, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
Sonali S Patel, Trudy L Burns, Lorenzo D Botto, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2022
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes
Gregory M Gheewalla, Jay Luther, Saumya Das, et al.
Hormone Research in Paediatrics
|
September 30, 2019
Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic
Rabab Z Jafri, Erin A McNamara, Emma A Snyder, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 16, 2002
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force
J M Friedman, Jack Arbiser, Jonathan A Epstein, et al.
American Journal of Medical Genetics. Part A
|
December 25, 2009
Living with Costello syndrome: quality of life issues in older individuals
Elizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Ophthalmic Genetics
|
July 14, 2022
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Sandra Hoyek, Marlene Wang, Audina M Berrocal, et al.
Birth Defects Research
|
June 22, 2017
Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births
Rebecca F Liberman, Kelly D Getz, Dominique Heinke, et al.
Page
of 17