Concepedia

Karl Nielsen

KN

2

Publications

203

Citations

2

H-Index

1999

Active since

Affiliations

Hospital Ramos Mejía(Current)

Karl Nielsen is an author at Hospital Ramos Mejía specializing in clinical genetics, prenatal diagnosis, and monogenic disorders.

Top concepts

GeneticsMedicinePathologyClinical GeneticsMolecular GeneticsPrenatal DiagnosisMonogenic Disorders

Publications per year

1999–2001

2

Publications

2

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Eli Sprecher, Shivan Amin, Karl Nielsen et al. · Journal of Investigative Dermatology · 2001 · 162 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +10

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Frances J.D. Smith, Victor A. McKusick, Karl Nielsen et al. · Prenatal Diagnosis · 1999 · 41 citations

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