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The Journal of Clinical Endocrinology and Metabolism
|
July 24, 2025
Congenital hyperinsulinemic hypoglycemia with a new HADH mutation and pancreatic overexpression of GLP-1 receptors
Andrea Widmer, Urs Zumsteg, Gabor Szinnai, et al.
Early Human Development
|
June 6, 2025
Maternal experience of fetal movements from a child with AMC: MECA survey
Arda Arduç, Ingeborg H Linskens, Chakravarthy U Dussa, et al.
Journal of Medical Genetics
|
November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome
Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.
Clinical Dysmorphology
|
December 1, 2011
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability
Jan A Sidler, Isabel Filges, Nemya Boesch, et al.
Pediatrics
|
January 11, 2012
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4
Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2014
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
Isabel Filges, Steven Sparagana, Michael Sargent, et al.
European Journal of Human Genetics : EJHG
|
January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries
Nicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
Pediatric Blood & Cancer
|
December 18, 2024
Managing High-Risk PTPN11-Mutated Juvenile Myelomonocytic Leukemia in a Patient with SETBP1 Mosaicism
Ursula Tanriver, Mario Geppert, Isabel Filges, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2008
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients
Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, et al.
Gene
|
January 14, 2012
High resolution array in the clinical approach to chromosomal phenotypes
Isabel Filges, Luzia Suda, Peter Weber, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 62) with videos related to
Sort By:
Page
of 7
The Journal of Clinical Endocrinology and Metabolism
|
July 24, 2025
Congenital hyperinsulinemic hypoglycemia with a new HADH mutation and pancreatic overexpression of GLP-1 receptors
Andrea Widmer, Urs Zumsteg, Gabor Szinnai, et al.
Early Human Development
|
June 6, 2025
Maternal experience of fetal movements from a child with AMC: MECA survey
Arda Arduç, Ingeborg H Linskens, Chakravarthy U Dussa, et al.
Journal of Medical Genetics
|
November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome
Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.
Clinical Dysmorphology
|
December 1, 2011
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability
Jan A Sidler, Isabel Filges, Nemya Boesch, et al.
Pediatrics
|
January 11, 2012
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4
Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2014
Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
Isabel Filges, Steven Sparagana, Michael Sargent, et al.
European Journal of Human Genetics : EJHG
|
January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries
Nicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
Pediatric Blood & Cancer
|
December 18, 2024
Managing High-Risk PTPN11-Mutated Juvenile Myelomonocytic Leukemia in a Patient with SETBP1 Mosaicism
Ursula Tanriver, Mario Geppert, Isabel Filges, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2008
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients
Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, et al.
Gene
|
January 14, 2012
High resolution array in the clinical approach to chromosomal phenotypes
Isabel Filges, Luzia Suda, Peter Weber, et al.
Page
of 7