Search research articles
Contact Us
Filters
Showing results (61-70 of 338) with videos related to
Page
of 34
Sort By:
Pediatric Nephrology (Berlin, Germany)
|
January 10, 2012
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
Anja Lehnhardt, Albert Lama, Kerstin Amann, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotype
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
Pediatric Dermatology
|
January 27, 2023
Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases
Ramiro Cano, María Eugenia Abad, Denny Schanze, et al.
European Journal of Pediatrics
|
June 18, 2010
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
Gholam Hossein Fallahi, Mozhgan Sabbaghian, Manijeh Khalili, et al.
Klinische Padiatrie
|
August 15, 2017
Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency
Anna Maria Jung, Martin Zenker, Christina Lißewski, et al.
World Journal of Gastroenterology
|
December 6, 2008
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Naim Alkhouri, Barbara Kaplan, Marsha Kay, et al.
Journal of Neurosurgery. Case Lessons
|
April 6, 2026
De novo twig-like middle cerebral artery after suspected M1 dissection in early childhood with coexisting KRAS-mutated brain arteriovenous malformation: illustrative case
Pablo Albiña-Palmarola, Ali Khanafer, Martin Zenker, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
June 30, 2011
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach
Katharina Schoner, Barbara Fritz, Georg Huelskamp, et al.
Kidney International
|
October 24, 2018
Unrecognized juvenile nephropathic cystinosis
Jan Schiefer, Martin Zenker, Hermann-Josef Gröne, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
Martin Zenker, Bendicht Wermuth, Udo Trautmann, et al.
Page
of 34
Search research articles
Search
Showing results (61-70 of 338) with videos related to
Sort By:
Page
of 34
Pediatric Nephrology (Berlin, Germany)
|
January 10, 2012
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
Anja Lehnhardt, Albert Lama, Kerstin Amann, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2020
Aplasia cutis congenita in a CDC42-related developmental phenotype
Franziska Schnabel, Susanne B Kamphausen, Rudolf Funke, et al.
Pediatric Dermatology
|
January 27, 2023
Happle-Tinschert syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases
Ramiro Cano, María Eugenia Abad, Denny Schanze, et al.
European Journal of Pediatrics
|
June 18, 2010
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
Gholam Hossein Fallahi, Mozhgan Sabbaghian, Manijeh Khalili, et al.
Klinische Padiatrie
|
August 15, 2017
Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency
Anna Maria Jung, Martin Zenker, Christina Lißewski, et al.
World Journal of Gastroenterology
|
December 6, 2008
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Naim Alkhouri, Barbara Kaplan, Marsha Kay, et al.
Journal of Neurosurgery. Case Lessons
|
April 6, 2026
De novo twig-like middle cerebral artery after suspected M1 dissection in early childhood with coexisting KRAS-mutated brain arteriovenous malformation: illustrative case
Pablo Albiña-Palmarola, Ali Khanafer, Martin Zenker, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
June 30, 2011
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach
Katharina Schoner, Barbara Fritz, Georg Huelskamp, et al.
Kidney International
|
October 24, 2018
Unrecognized juvenile nephropathic cystinosis
Jan Schiefer, Martin Zenker, Hermann-Josef Gröne, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)
Martin Zenker, Bendicht Wermuth, Udo Trautmann, et al.
Page
of 34