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1 . Academic Journal
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
저자
by
Alex V. Postma
;
Christina K. Rapp
;
Katrin Knoflach
;
Alexander E. Volk
;
Johannes R. Lemke
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)
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7 . Academic Journal
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
저자
by
Chiara L. Blomen
;
Aliaksandra Pott
;
Alexander E. Volk
;
Lars Budäus
;
Isabell Witzel
.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family
저자
by
Elisabeth Niemeyer
;
Hamid Mofid
;
Carsten Zornig
;
Eike-Christian Burandt
;
Alexander Stein
, et al.
소스
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
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7 . Academic Journal
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
저자
by
Martine Dumont
;
Nana Weber-Lassalle
;
Charles Joly-Beauparlant
;
Corinna Ernst
;
Arnaud Droit
, et al.
소스
Cancers, Vol 14, Iss 14, p 3363 (2022)
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7 . Academic Journal
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
저자
by
Nana Weber-Lassalle
;
Julika Borde
;
Konstantin Weber-Lassalle
;
Judit Horváth
;
Dieter Niederacher
, et al.
소스
Breast Cancer Research, Vol 21, Iss 1, Pp 1-6 (2019)
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7 . Academic Journal
Predicting disease progression in behavioral variant frontotemporal dementia
저자
by
Sarah Anderl‐Straub
;
Ludwig Lausser
;
Jolina Lombardi
;
Ingo Uttner
;
Klaus Fassbender
, et al.
소스
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
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7 . Academic Journal
Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
저자
by
Jan Hauke
;
Judit Horvath
;
Eva Groß
;
Andrea Gehrig
;
Ellen Honisch
, et al.
소스
Cancer Medicine, Vol 7, Iss 4, Pp 1349-1358 (2018)
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7 . Academic Journal
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
저자
by
Nana Weber-Lassalle
;
Jan Hauke
;
Juliane Ramser
;
Lisa Richters
;
Eva Groß
, et al.
소스
Breast Cancer Research, Vol 20, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients – An Atlas-Based Volumetric MRI Study
저자
by
Sonja Schönecker
;
Christiane Neuhofer
;
Markus Otto
;
Albert Ludolph
;
Jan Kassubek
, et al.
소스
Frontiers in Aging Neuroscience, Vol 10 (2018)
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7 .
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with
DAB1
and
C9ORF72
Repeat Expansions: An 18‐Year Study
저자
by
Angela Rosenbohm
;
Hendrik Pott
;
Mirja Thomsen
;
Haloom Rafehi
;
Sabine Kaya
, et al.
소스
Movement Disorders
. 37:2427-2439
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