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Nature Communications
|
July 12, 2020
Molecular basis for the distinct functions of redox-active and FeS-transfering glutaredoxins
Daniel Trnka, Anna D Engelke, Manuela Gellert, et al.
Birth Defects Research
|
February 2, 2018
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene
Valerie Weitensteiner, Rong Zhang, Julia Bungenberg, et al.
The Journal of Clinical Investigation
|
March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Redox Biology
|
December 24, 2021
Glutaredoxin 2 promotes SP-1-dependent CSPG4 transcription and migration of wound healing NG2 glia and glioma cells: Enzymatic Taoism
Christina Wilms, Klaudia Lepka, Felix Häberlein, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
European Journal of Human Genetics : EJHG
|
December 20, 2024
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models
Nina Ishorst, Selina Hölzel, Carola Greve, et al.
Scientific Reports
|
February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Rong Zhang, Michael Knapp, Kentaro Suzuki, et al.
American Journal of Human Genetics
|
May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Caroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Journal of Medical Genetics
|
December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomalies
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
Frontiers in Cell and Developmental Biology
|
August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal Development
Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
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Search research articles
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Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
Nature Communications
|
July 12, 2020
Molecular basis for the distinct functions of redox-active and FeS-transfering glutaredoxins
Daniel Trnka, Anna D Engelke, Manuela Gellert, et al.
Birth Defects Research
|
February 2, 2018
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene
Valerie Weitensteiner, Rong Zhang, Julia Bungenberg, et al.
The Journal of Clinical Investigation
|
March 14, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, et al.
Redox Biology
|
December 24, 2021
Glutaredoxin 2 promotes SP-1-dependent CSPG4 transcription and migration of wound healing NG2 glia and glioma cells: Enzymatic Taoism
Christina Wilms, Klaudia Lepka, Felix Häberlein, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
European Journal of Human Genetics : EJHG
|
December 20, 2024
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models
Nina Ishorst, Selina Hölzel, Carola Greve, et al.
Scientific Reports
|
February 9, 2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development
Rong Zhang, Michael Knapp, Kentaro Suzuki, et al.
American Journal of Human Genetics
|
May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Caroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Journal of Medical Genetics
|
December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomalies
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
Frontiers in Cell and Developmental Biology
|
August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal Development
Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
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of 5