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American Journal of Human Genetics
|
March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Felix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Kidney International Reports
|
July 13, 2023
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
Abdul A Halawi, Kathrin Burgmaier, Anja K Buescher, et al.
Genome Medicine
|
August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Nikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Human Molecular Genetics
|
October 31, 2025
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans
Sarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 22, 2023
Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathy
Florian Erger, Rajindra P Aryal, Björn Reusch, et al.
Scientific Reports
|
September 30, 2020
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
Kathrin Burgmaier, Gema Ariceta, Martin Bald, et al.
EMBO Molecular Medicine
|
June 16, 2021
Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19
Sebastian J Theobald, Alexander Simonis, Theodoros Georgomanolis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2021
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Felix Marbach, Georgi Stoyanov, Florian Erger, et al.
Kidney International
|
February 8, 2025
A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months
Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, et al.
Kidney International
|
May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Kathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
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of 5
Search research articles
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Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
American Journal of Human Genetics
|
March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Felix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Kidney International Reports
|
July 13, 2023
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
Abdul A Halawi, Kathrin Burgmaier, Anja K Buescher, et al.
Genome Medicine
|
August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Nikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Human Molecular Genetics
|
October 31, 2025
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans
Sarah W Curtis, Cinderella Yang, Alba Sanchis-Juan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 22, 2023
Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathy
Florian Erger, Rajindra P Aryal, Björn Reusch, et al.
Scientific Reports
|
September 30, 2020
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
Kathrin Burgmaier, Gema Ariceta, Martin Bald, et al.
EMBO Molecular Medicine
|
June 16, 2021
Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19
Sebastian J Theobald, Alexander Simonis, Theodoros Georgomanolis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2021
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Felix Marbach, Georgi Stoyanov, Florian Erger, et al.
Kidney International
|
February 8, 2025
A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months
Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, et al.
Kidney International
|
May 3, 2021
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Kathrin Burgmaier, Leonie Brinker, Florian Erger, et al.
Page
of 5