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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 16, 2022
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Kiril Malovitski, Ofer Sarig, Sari Assaf, et al.
Immunology
|
May 14, 2014
Pemphigus vulgaris is characterized by low IgG reactivities to specific self-antigens along with high IgG reactivity to desmoglein 3
Ittai Fattal, Jacob Rimer, Noam Shental, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1
Ofer Sarig, Dorit Goldsher, Janna Nousbeck, et al.
The British Journal of Dermatology
|
May 24, 2022
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence
Mor Pavlovsky, Alon Peled, Ofer Sarig, et al.
Pediatric Dermatology
|
April 19, 2016
Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement
Marina Eskin-Schwartz, Yoav Metzger, Alon Peled, et al.
Experimental Dermatology
|
July 4, 2020
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis
Janan Mohamad, Arti Nanda, Mor Pavlovsky, et al.
The Journal of Clinical Investigation
|
March 26, 2013
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
Robert M Harmon, Cory L Simpson, Jodi L Johnson, et al.
Pediatric Dermatology
|
March 27, 2023
Woolly hair in tricho-dento-osseous syndrome
Héctor Perandones-González, Lluis Rusiñol-Batlle, David Bosquez, et al.
The Journal of Investigative Dermatology
|
June 12, 2026
An ITGB4 variant modifies the severity of ITGA3-associated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB)
Lubna Gazi Khair, Ofer Sarig, Rawaa Fayez Ishtewy, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2023
Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
Alon Peled, Ofer Sarig, Janan Mohamad, et al.
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Search research articles
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Showing results (31-40 of 71) with videos related to
Sort By:
Page
of 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 16, 2022
Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Kiril Malovitski, Ofer Sarig, Sari Assaf, et al.
Immunology
|
May 14, 2014
Pemphigus vulgaris is characterized by low IgG reactivities to specific self-antigens along with high IgG reactivity to desmoglein 3
Ittai Fattal, Jacob Rimer, Noam Shental, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1
Ofer Sarig, Dorit Goldsher, Janna Nousbeck, et al.
The British Journal of Dermatology
|
May 24, 2022
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence
Mor Pavlovsky, Alon Peled, Ofer Sarig, et al.
Pediatric Dermatology
|
April 19, 2016
Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement
Marina Eskin-Schwartz, Yoav Metzger, Alon Peled, et al.
Experimental Dermatology
|
July 4, 2020
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis
Janan Mohamad, Arti Nanda, Mor Pavlovsky, et al.
The Journal of Clinical Investigation
|
March 26, 2013
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
Robert M Harmon, Cory L Simpson, Jodi L Johnson, et al.
Pediatric Dermatology
|
March 27, 2023
Woolly hair in tricho-dento-osseous syndrome
Héctor Perandones-González, Lluis Rusiñol-Batlle, David Bosquez, et al.
The Journal of Investigative Dermatology
|
June 12, 2026
An ITGB4 variant modifies the severity of ITGA3-associated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB)
Lubna Gazi Khair, Ofer Sarig, Rawaa Fayez Ishtewy, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2023
Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
Alon Peled, Ofer Sarig, Janan Mohamad, et al.
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of 8