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Rudolf Happle

Showing results (211-220 of 223) with videos related to

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The Journal of Investigative Dermatology|May 18, 2012
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutationsJennifer A Easton, Steven Donnelly, Miriam A F Kamps, et al.
European Journal of Medical Genetics|March 30, 2022
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutationsClaudia Schuart, Andrea Bassi, Friedrich Kapp, et al.
Journal of the American Academy of Dermatology|September 25, 2002
Occupational alopecia or alopecia areata?Antonella Tosti, Bianca Maria Piraccini, Wilma F Bergfeld, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|August 5, 2003
Morphological approach to hair disordersRodney Sinclair, Damian Jolley, Rica Mallari, et al.
American Journal of Human Genetics|April 14, 2009
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseFrank Oeffner, Gayle Fischer, Rudolf Happle, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
Nature Genetics|June 5, 2007
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, et al.
Journal of the American Academy of Dermatology|August 16, 2011
Folliculocystic and collagen hamartoma of tuberous sclerosis complexAntonio Torrelo, Smail Hadj-Rabia, Isabel Colmenero, et al.
Human Mutation|January 15, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.
Pageof 23

Showing results (211-220 of 223) with videos related to

Sort By:
Pageof 23
The Journal of Investigative Dermatology|May 18, 2012
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutationsJennifer A Easton, Steven Donnelly, Miriam A F Kamps, et al.
European Journal of Medical Genetics|March 30, 2022
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutationsClaudia Schuart, Andrea Bassi, Friedrich Kapp, et al.
Journal of the American Academy of Dermatology|September 25, 2002
Occupational alopecia or alopecia areata?Antonella Tosti, Bianca Maria Piraccini, Wilma F Bergfeld, et al.
The Journal of Investigative Dermatology. Symposium Proceedings|August 5, 2003
Morphological approach to hair disordersRodney Sinclair, Damian Jolley, Rica Mallari, et al.
American Journal of Human Genetics|April 14, 2009
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseFrank Oeffner, Gayle Fischer, Rudolf Happle, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
Nature Genetics|June 5, 2007
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl-Heinz Grzeschik, Dorothea Bornholdt, Frank Oeffner, et al.
Journal of the American Academy of Dermatology|August 16, 2011
Folliculocystic and collagen hamartoma of tuberous sclerosis complexAntonio Torrelo, Smail Hadj-Rabia, Isabel Colmenero, et al.
Human Mutation|January 15, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.
Pageof 23