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Person

Denise Horn

Ärztin

Name	Denise Horn
Ort	Deutschland
Geschlecht	weiblich
Akademischer Grad bzw. Titel	Prof. Dr. med.
Beruf	Ärztin (charakteristischer Beruf)
Beziehung	Charité - Universitätsmedizin Berlin Humangenetik (Thema)
Weitere Angaben	Tätig am Institut für Humangenetik an der Charité Berlin
Quelle	Vorlage
Datensatztyp	Person
GND-Nummer	107212100X
Datensatz-ID	107212100X
Beteiligt an alle anzeigen Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Genome sequencing in families with congenital limb malformations Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 PEDIA: prioritization of exome data by image analysis SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Limb malformations : an atlas of genetic disorders of limb development A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

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Katalog der Deutschen Nationalbibliothek

Denise Horn

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Genome sequencing in families with congenital limb malformations

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

PEDIA: prioritization of exome data by image analysis

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Limb malformations : an atlas of genetic disorders of limb development

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH