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European Journal of Human Genetics : EJHG
|
May 19, 2011
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes
Jennifer Boyle, Malcolm Hawkins, David E Barton, et al.
European Journal of Human Genetics : EJHG
|
May 24, 2012
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
Deborah Tamura, Sikandar G Khan, Melissa Merideth, et al.
Experimental Dermatology
|
July 19, 2008
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)
Steffen Emmert, Takahiro Ueda, Urs Zumsteg, et al.
Research Involvement and Engagement
|
May 27, 2026
Patient partnership in primary health care systems of the future: a structured priority setting exercise
Rebecca Ganann, Maggie MacNeil, Aya Tagami, et al.
Archives of Dermatology
|
November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew
Stéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
Prenatal Diagnosis
|
July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
Deborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
JMIR Research Protocols
|
March 17, 2026
Updating the Good Reporting of a Mixed Methods Study (GRAMMS) Reporting Guidelines: Protocol for a Methodological Review and Modified Delphi Process
Sarah Munce, Sergi Fàbregues, Quan Nha Hong, et al.
European Journal of Human Genetics : EJHG
|
August 26, 2010
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome
Malcolm Hawkins, Jennifer Boyle, Kathleen E Wright, et al.
Critical Reviews in Oncology/Hematology
|
October 9, 2020
International liquid biopsy standardization alliance white paper
Dana Connors, Jeff Allen, J D Alvarez, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
European Journal of Human Genetics : EJHG
|
May 19, 2011
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes
Jennifer Boyle, Malcolm Hawkins, David E Barton, et al.
European Journal of Human Genetics : EJHG
|
May 24, 2012
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum
Deborah Tamura, Sikandar G Khan, Melissa Merideth, et al.
Experimental Dermatology
|
July 19, 2008
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)
Steffen Emmert, Takahiro Ueda, Urs Zumsteg, et al.
Research Involvement and Engagement
|
May 27, 2026
Patient partnership in primary health care systems of the future: a structured priority setting exercise
Rebecca Ganann, Maggie MacNeil, Aya Tagami, et al.
Archives of Dermatology
|
November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew
Stéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.
Prenatal Diagnosis
|
July 30, 2011
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies
Deborah Tamura, Melissa Merideth, John J DiGiovanna, et al.
JMIR Research Protocols
|
March 17, 2026
Updating the Good Reporting of a Mixed Methods Study (GRAMMS) Reporting Guidelines: Protocol for a Methodological Review and Modified Delphi Process
Sarah Munce, Sergi Fàbregues, Quan Nha Hong, et al.
European Journal of Human Genetics : EJHG
|
August 26, 2010
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome
Malcolm Hawkins, Jennifer Boyle, Kathleen E Wright, et al.
Critical Reviews in Oncology/Hematology
|
October 9, 2020
International liquid biopsy standardization alliance white paper
Dana Connors, Jeff Allen, J D Alvarez, et al.
Ophthalmology
|
October 1, 2011
Ocular manifestations of trichothiodystrophy
Brian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Page
of 4