Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Katja Eggermann

Infants Diagnosed With Spinal Muscular Atrophy and 4 SMN2 Copies Through Newborn Screening –Opportunity or Burden?

Journal of Neuromuscular Diseases
Neurology
2020English

Related publications

Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine
MedicineGenetics
2008English

Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2

Genetics in Medicine
MedicineGenetics
2002English

Psy71 - Economic Burden of Spinal Muscular Atrophy in Italy

Value in Health
MedicineHealth PolicyPublic HealthOccupational HealthEnvironmental
2018English

Psy27 - Spinal Muscular Atrophy: A Review of Epidemiology, Burden and Unmet Needs

Value in Health
MedicineHealth PolicyPublic HealthOccupational HealthEnvironmental
2018English

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine
MedicineGenetics
2020English

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine
Child HealthCritical CarePediatricsPerinatologyIntensive Care Medicine
2012English

Factors Affecting the Growth of Infants Diagnosed With Cystic Fibrosis by Newborn Screening

BMC Pediatrics
Child HealthPediatricsPerinatology
2019English

Spinal Muscular Atrophy With Preserved Deep Tendon Reflexes

Indian Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri
Child HealthPediatricsPerinatology
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy