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Katrin Hinderhofer (1968-)

Humangenetikerin

Name	Katrin Hinderhofer
Zeit	1968- (Lebensdaten)
Ort	Heidelberg (Wirkungsort) Deutschland
Akademischer Grad bzw. Titel	PD Dr. rer. nat.
Beruf	Humangenetikerin (charakteristischer Beruf)
Variante	Karin Hinderhofer (falsche Namensform)
Beziehung	Klinikum Heidelberg
Weitere Angaben	Diss. Techn. Biologie; wissenschaftliche Mitarbeiterin; Laborleiterin des Labors für Molekulargenetische Diagnostik - hereditäre Erkrankungen am Institut für Humangenetik, Universitätsklinikum Heidelberg, Dietmar-Hopp-Stoffwechselzentrum, Zentrum für Kinder- und Jugendmedizin am Universitätsklinikum Heidelberg
Datensatztyp	Person
GND-Nummer	120651440
Datensatz-ID	120651440
Beteiligt an alle anzeigen Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients? Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity? Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity? Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve Critical appraisal of genotype assessment in molybdenum cofactor deficiency Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome Impact of clinical exomes in neurodevelopmental and neurometabolic disorders EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension Ornithine transcarbamylase deficiency of a male newborn with fatal outcome Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations Untersuchung der Expression von Hitzeschockgenen, deren Regulation und der Einfluß von ABI3 während der Samenreifung in Arabidopsis thaliana (L.) Heynh.

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Katrin Hinderhofer (1968-)

Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?

Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Activation of AKT/mammalian target of rapamycin signaling in the peripheral blood of women with premature ovarian insufficiency and its correlation with FMR1 expression

Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve

Critical appraisal of genotype assessment in molybdenum cofactor deficiency

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

Untersuchung der Expression von Hitzeschockgenen, deren Regulation und der Einfluß von ABI3 während der Samenreifung in Arabidopsis thaliana (L.) Heynh.