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Journal of Medical Genetics
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May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disability
Arisha Rasheed, Evren Gumus, Maha Zaki, et al.
Brain & Development
|
February 15, 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis
Jin Sook Lee, Jong-Moon Choi, Moses Lee, et al.
Experimental & Molecular Medicine
|
December 16, 2017
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, et al.
NPJ Genomic Medicine
|
January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
Raman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
The Journal of Allergy and Clinical Immunology
|
October 20, 2015
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4
Sangmoon Lee, Jin Soo Moon, Cho-Rong Lee, et al.
Journal of Cellular and Molecular Medicine
|
April 30, 2022
RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis
Sehoon Park, Hajeong Lee, Jeongha Lee, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Cancers
|
July 2, 2021
Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness
Yongjin Yoo, Sang-Yoon Park, Eun Byeol Jo, et al.
Journal of the American Society of Nephrology : JASN
|
April 13, 2016
The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy
Seung Seok Han, Seung Hee Yang, Murim Choi, et al.
Cell Reports. Medicine
|
July 1, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach
Sang-Yeon Lee, Seungbok Lee, Seongyeol Park, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 56) with videos related to
Sort By:
Page
of 6
Journal of Medical Genetics
|
May 23, 2020
Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disability
Arisha Rasheed, Evren Gumus, Maha Zaki, et al.
Brain & Development
|
February 15, 2018
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis
Jin Sook Lee, Jong-Moon Choi, Moses Lee, et al.
Experimental & Molecular Medicine
|
December 16, 2017
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, et al.
NPJ Genomic Medicine
|
January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
Raman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
The Journal of Allergy and Clinical Immunology
|
October 20, 2015
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4
Sangmoon Lee, Jin Soo Moon, Cho-Rong Lee, et al.
Journal of Cellular and Molecular Medicine
|
April 30, 2022
RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis
Sehoon Park, Hajeong Lee, Jeongha Lee, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
Cancers
|
July 2, 2021
Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness
Yongjin Yoo, Sang-Yoon Park, Eun Byeol Jo, et al.
Journal of the American Society of Nephrology : JASN
|
April 13, 2016
The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy
Seung Seok Han, Seung Hee Yang, Murim Choi, et al.
Cell Reports. Medicine
|
July 1, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach
Sang-Yeon Lee, Seungbok Lee, Seongyeol Park, et al.
Page
of 6