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Clinical Case Reports
|
August 17, 2021
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with <i>TP63</i> gene mutation and <i>LZTR1</i> gene variants
Yannick Hurni, Martina Marangoni, Giulia Garofalo, et al.
Development (Cambridge, England)
|
May 16, 2023
Mesodermal FGF and BMP govern the sequential stages of zebrafish thyroid specification
Benoit Haerlingen, Robert Opitz, Isabelle Vandernoot, et al.
Endocrinology
|
October 30, 2014
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis
Robert Opitz, Marc-Philip Hitz, Isabelle Vandernoot, et al.
Alzheimer Disease and Associated Disorders
|
November 26, 2024
G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors
Kurt Segers, Florence Benoit, Sophie Levy, et al.
JCI Insight
|
January 26, 2021
Distinct antibody repertoires against endemic human coronaviruses in children and adults
Taushif Khan, Mahbuba Rahman, Fatima Al Ali, et al.
European Journal of Human Genetics : EJHG
|
July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Medical Genetics
|
July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Sebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
The Journal of Experimental Medicine
|
June 7, 2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Martina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Science (New York, N.Y.)
|
September 25, 2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Qian Zhang, Paul Bastard, Zhiyong Liu, et al.
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Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
Clinical Case Reports
|
August 17, 2021
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with <i>TP63</i> gene mutation and <i>LZTR1</i> gene variants
Yannick Hurni, Martina Marangoni, Giulia Garofalo, et al.
Development (Cambridge, England)
|
May 16, 2023
Mesodermal FGF and BMP govern the sequential stages of zebrafish thyroid specification
Benoit Haerlingen, Robert Opitz, Isabelle Vandernoot, et al.
Endocrinology
|
October 30, 2014
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis
Robert Opitz, Marc-Philip Hitz, Isabelle Vandernoot, et al.
Alzheimer Disease and Associated Disorders
|
November 26, 2024
G2019S Mutation of Leucine-Rich Repeat Kinase 2 Is a Cause of Lewy Body Dementia in Patients With North African Ancestors
Kurt Segers, Florence Benoit, Sophie Levy, et al.
JCI Insight
|
January 26, 2021
Distinct antibody repertoires against endemic human coronaviruses in children and adults
Taushif Khan, Mahbuba Rahman, Fatima Al Ali, et al.
European Journal of Human Genetics : EJHG
|
July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Eva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Medical Genetics
|
July 1, 2025
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Sebastian Neuens, Julie Soblet, Aurelie Penninckx, et al.
The Journal of Experimental Medicine
|
June 7, 2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Tessa Mollie Campbell, Zhiyong Liu, Qian Zhang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
Martina Marangoni, Guillaume Smits, Gilles Ceysens, et al.
Science (New York, N.Y.)
|
September 25, 2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Qian Zhang, Paul Bastard, Zhiyong Liu, et al.
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of 2