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European Journal of Human Genetics : EJHG
|
March 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
Frederike L Harms, Christian Müller, Fanny Kortüm, et al.
American Journal of Human Genetics
|
November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset Neurodegeneration
Maya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Human Genetics
|
August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 8, 2016
Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4
Verena Schuette, Maria Embgenbroich, Thomas Ulas, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
February 6, 2021
Virus-positive Merkel Cell Carcinoma Is an Independent Prognostic Group with Distinct Predictive Biomarkers
Kelly L Harms, Lili Zhao, Bryan Johnson, et al.
Human Mutation
|
March 19, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Renata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, et al.
JAMA Surgery
|
October 22, 2025
Gene Expression Profile-Based Test to Predict Melanoma Sentinel Node Status: The MERLIN_001 Study
Tina J Hieken, Michael E Egger, Christina V Angeles, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Ophthalmic Genetics
|
March 8, 2026
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context
Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Translational Psychiatry
|
January 22, 2019
Reproducible grey matter patterns index a multivariate, global alteration of brain structure in schizophrenia and bipolar disorder
Emanuel Schwarz, Nhat Trung Doan, Giulio Pergola, et al.
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of 15
Search research articles
Search
Showing results (131-140 of 144) with videos related to
Sort By:
Page
of 15
European Journal of Human Genetics : EJHG
|
March 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes
Frederike L Harms, Christian Müller, Fanny Kortüm, et al.
American Journal of Human Genetics
|
November 20, 2020
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl<sup>-</sup>/H<sup>+</sup>-Exchanger, Causes Early-Onset Neurodegeneration
Maya M Polovitskaya, Carlo Barbini, Diego Martinelli, et al.
Human Genetics
|
August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 8, 2016
Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4
Verena Schuette, Maria Embgenbroich, Thomas Ulas, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
February 6, 2021
Virus-positive Merkel Cell Carcinoma Is an Independent Prognostic Group with Distinct Predictive Biomarkers
Kelly L Harms, Lili Zhao, Bryan Johnson, et al.
Human Mutation
|
March 19, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Renata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, et al.
JAMA Surgery
|
October 22, 2025
Gene Expression Profile-Based Test to Predict Melanoma Sentinel Node Status: The MERLIN_001 Study
Tina J Hieken, Michael E Egger, Christina V Angeles, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.
Ophthalmic Genetics
|
March 8, 2026
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context
Sara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Translational Psychiatry
|
January 22, 2019
Reproducible grey matter patterns index a multivariate, global alteration of brain structure in schizophrenia and bipolar disorder
Emanuel Schwarz, Nhat Trung Doan, Giulio Pergola, et al.
Page
of 15