Detalhe da pesquisa
1.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
2.
Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.
BMC Psychiatry
; 18(1): 248, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071822
3.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
J Med Genet
; 50(6): 360-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564750
4.
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
Mov Disord
; 32(3): 478-480, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27869329
5.
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.
Biomolecules
; 11(2)2021 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498938
6.
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Neuromuscul Disord
; 31(2): 123-133, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414056
7.
New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.
Front Immunol
; 10: 412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30949164
8.
Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?
Front Psychiatry
; 10: 270, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31118906
9.
Assessment of leech therapy for knee osteoarthritis: a randomized study.
Acta Orthop
; 79(2): 235-43, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18484250
10.
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
J Clin Endocrinol Metab
; 103(10): 3601-3610, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032214
11.
Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience.
JCO Precis Oncol
; 22018.
Artigo
em Inglês
| MEDLINE | ID: mdl-32913998
12.
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
J Invest Dermatol
; 133(9): 2202-11, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23549421