scholarly journals Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

2020 ◽  
Vol 11 ◽  
Author(s):  
Lorenzo Maggi ◽  
Raffaella Brugnoni ◽  
Eleonora Canioni ◽  
Paola Tonin ◽  
Veronica Saletti ◽  
...  
Keyword(s):  
Large Cohort ◽  
Molecular Spectrum ◽  
Periodic Paralyses

Neurofibromatosis type 1: Molecular spectrum of the NF1 mutations in a large cohort of adult Italian patients

2021 ◽  
Vol 429 ◽  
pp. 118277
Author(s):  
Filomena Napolitano ◽  
Milena Dell'Aquila ◽  
Giuseppina Franzese ◽  
Chiara Terracciano ◽  
Simone Sampaolo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Large Cohort ◽  
Molecular Spectrum

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

2017 ◽  
Vol 27 (9) ◽  
pp. 793-803 ◽  
Author(s):  
Maria Sframeli ◽  
Anna Sarkozy ◽  
Marta Bertoli ◽  
Guja Astrea ◽  
Judith Hudson ◽  
...  
Keyword(s):  
Large Cohort ◽  
Molecular Spectrum ◽  
Muscular Dystrophies ◽  
The Uk

Evaluation of a food frequency questionnaire to determine dietary intake in a large cohort: The SAPALDIA study

2012 ◽  
Vol 37 (03) ◽  
Author(s):  
N Steinemann ◽  
IU Leonhäuser ◽  
N Probst-Hensch ◽  
L Grize ◽  
C Brombach
Keyword(s):  
Dietary Intake ◽  
Food Frequency Questionnaire ◽  
Large Cohort ◽  
Food Frequency

Expanding the clinical and molecular spectrum of ferroportin disease

2017 ◽  
Vol 55 (05) ◽  
pp. e28-e56
Author(s):  
A Viveiros ◽  
B Schäfer ◽  
A Finkenstedt ◽  
B Henninger ◽  
K Nachbaur ◽  
...  
Keyword(s):  
Molecular Spectrum

Low Frequency of Mismatch Repair Deficiency in a Large Cohort of Non-liver fluke associated Cholangiocarcinomas

2018 ◽  
Vol 56 (01) ◽  
pp. E2-E89
Author(s):  
B Goeppert ◽  
S Roessler ◽  
M Renner ◽  
S Singer ◽  
A Mehrabi ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Liver Fluke ◽  
Low Frequency ◽  
Large Cohort ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency

Clinical relevance of H-RAS, K-RAS and N-RAS in a large cohort of primary breast cancer patients

2018 ◽  
Author(s):  
M Banys-Paluchowski ◽  
K Milde-Langosch ◽  
T Fehm ◽  
I Witzel ◽  
L Oliveira-Ferrer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Clinical Relevance ◽  
Primary Breast Cancer ◽  
Large Cohort ◽  
Breast Cancer Patients

Frequency of Spinal Cord Involvement and Autoantibody Status in a Large Cohort of Children Presenting with a First Acute Demyelinating Syndrome

2019 ◽  
Author(s):  
Ines El Naggar ◽  
Eva-Maria Wendel ◽  
Christian Lechner ◽  
Kathrin Schanda ◽  
Michael Karenfort ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Large Cohort ◽  
Spinal Cord Involvement ◽  
Autoantibody Status
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