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European Journal of Human Genetics : EJHG
|
July 31, 2008
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
Inga Ebermann, Robert K Koenekoop, Irma Lopez, et al.
Clinical Genetics
|
April 4, 2017
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype
A O Khan, B S Budde, P Nürnberg, et al.
The Journal of Arthroplasty
|
June 3, 2024
Short-Term (90 Days) Clinical Outcomes Following the Day of Surgery Conversion of Inpatient to Same-Day Hip and Knee Arthroplasty
Brynn P Charron, Nicholas J Bolz, Brent A Lanting, et al.
Cold Spring Harbor Molecular Case Studies
|
October 28, 2022
A novel large in-frame <i>FBN1</i> deletion causes neonatal Marfan syndrome
Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2014
Tectonic gene mutations in patients with Joubert syndrome
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.
The British Journal of Ophthalmology
|
May 1, 2009
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene
P Charbel Issa, H J Bolz, I Ebermann, et al.
Neurology
|
June 11, 2008
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
I Ebermann, S M Elsayed, T Y Abdel-Ghaffar, et al.
Genes
|
February 5, 2020
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies
Johannes Birtel, Martin Gliem, Kristina Hess, et al.
Clinical Genetics
|
November 4, 2016
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)
C Neuhaus, R Lang-Roth, U Zimmermann, et al.
Genes
|
October 29, 2025
Mutation of the Thyroid Hormone Receptor Beta Gene (<i>THRB</i>) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability
Elisa A Mahler, Lars C Moeller, Katharina Wall, et al.
Page
of 15
Search research articles
Search
Showing results (91-100 of 148) with videos related to
Sort By:
Page
of 15
European Journal of Human Genetics : EJHG
|
July 31, 2008
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
Inga Ebermann, Robert K Koenekoop, Irma Lopez, et al.
Clinical Genetics
|
April 4, 2017
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype
A O Khan, B S Budde, P Nürnberg, et al.
The Journal of Arthroplasty
|
June 3, 2024
Short-Term (90 Days) Clinical Outcomes Following the Day of Surgery Conversion of Inpatient to Same-Day Hip and Knee Arthroplasty
Brynn P Charron, Nicholas J Bolz, Brent A Lanting, et al.
Cold Spring Harbor Molecular Case Studies
|
October 28, 2022
A novel large in-frame <i>FBN1</i> deletion causes neonatal Marfan syndrome
Sümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2014
Tectonic gene mutations in patients with Joubert syndrome
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.
The British Journal of Ophthalmology
|
May 1, 2009
Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene
P Charbel Issa, H J Bolz, I Ebermann, et al.
Neurology
|
June 11, 2008
Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome
I Ebermann, S M Elsayed, T Y Abdel-Ghaffar, et al.
Genes
|
February 5, 2020
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies
Johannes Birtel, Martin Gliem, Kristina Hess, et al.
Clinical Genetics
|
November 4, 2016
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)
C Neuhaus, R Lang-Roth, U Zimmermann, et al.
Genes
|
October 29, 2025
Mutation of the Thyroid Hormone Receptor Beta Gene (<i>THRB</i>) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability
Elisa A Mahler, Lars C Moeller, Katharina Wall, et al.
Page
of 15