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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Human molecular genetics, 2014-11, Vol.23 (22), p.5940-5949

2014

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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2012-05, Vol.90 (5), p.856-863

2012

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A novel single base pair duplication in WDR62 causes primary microcephaly

BMC medical genetics, 2014-10, Vol.15 (1), Article 107

2014

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Der einfluss von pdgf-bb auf die rekrutierung von reninexprimierenden zellen in der niere

Rupp, Verena

2016

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Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms

Journal of medical genetics, 2012-07, Vol.49 (7), p.422-428

2012

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A novel single base pair duplication in WDR62 causes primary microcephaly

BMC medical genetics, 2014-10, Vol.15, p.107

2014

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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death

Circulation. Cardiovascular genetics, 2016-04, Vol.9 (2), p.130

2016

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Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

Journal of genetics, 2014-08, Vol.93 (2), p.527-530

2014

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Germline mutations in the DNA damage response genes BRCA 1, BRCA2, BARD 1 and TP53 in patients with therapy related myeloid neoplasms

Journal of medical genetics, 2012, Vol.49 (7), p.422-428

2012

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Development of renal renin‐expressing cells does not involve PDGF‐B‐PDGFR‐β signaling

Physiological reports, 2013-10, Vol.1 (5), p.e00132-n/a

2013

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Disordered eating symptoms in Austrian men of different ages in the context of fitness centers

Eating and weight disorders, 2022-06, Vol.27 (5), p.1765-1773

2022

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Prognostic impact of the post-treatment T cell composition and spatial organization in soft tissue sarcoma patients treated with neoadjuvant hyperthermic radio(chemo)therapy

Frontiers in immunology, 2023-05, Vol.14, p.1185197-1185197

2023

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Timing of antimicrobial prophylaxis for cesarean section is critical for gut microbiome development in term born infants

Gut microbes, 2022-12, Vol.14 (1), p.2038855-2038855

2022

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Early post-discharge mortality in CAP: frequency, risk factors and a prediction tool

European journal of clinical microbiology & infectious diseases, 2022-04, Vol.41 (4), p.621-630

2022

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The impact of dendrimer-grafted modifications to model silicon surfaces on protein adsorption and bacterial adhesion

Biomaterials, 2011-12, Vol.32 (35), p.9168-9179

2011

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Transcriptomic Cross‐Species Analysis of Chronic Liver Disease Reveals Consistent Regulation Between Humans and Mice

Hepatology communications, 2022-01, Vol.6 (1), p.161-177

2022

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Reticulate evolution in diploid and tetraploid species of Polystachya (Orchidaceae) as shown by plastid DNA sequences and low-copy nuclear genes

Annals of botany, 2010-07, Vol.106 (1), p.37-56

2010

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The Offprint of an Abnormal Pre-Parotidectomy Electrodiagnostic Finding in a Normally Functioning Facial Nerve: Correlation with Intraoperative Findings, Histology and Postoperative Facial Nerve Function

Journal of clinical medicine, 2022-01, Vol.11 (1), p.248

2022

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The C-terminal 32-mer fragment of hemoglobin alpha is an amyloidogenic peptide with antimicrobial properties

Cellular and molecular life sciences : CMLS, 2023-06, Vol.80 (6), p.151-151, Article 151

2023

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Nuclear Translocation of RELB Is Increased in Diseased Human Liver and Promotes Ductular Reaction and Biliary Fibrosis in Mice

Gastroenterology (New York, N.Y. 1943), 2019-03, Vol.156 (4), p.1190-1205.e14

2019

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Early oral switch therapy in low-risk Staphylococcus aureus bloodstream infection (SABATO): study protocol for a randomized controlled trial

Trials, 2015-10, Vol.16 (1), p.450-450, Article 450

2015

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Structural changes of the corpus callosum in tinnitus

Frontiers in systems neuroscience, 2012-01, Vol.6, p.17-17

2012

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Surface-immobilized PAMAM-dendrimers modified with cationic or anionic terminal functions: Physicochemical surface properties and conformational changes after application of liquid interface stress

Journal of colloid and interface science, 2012-01, Vol.366 (1), p.179-190

2012

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Divergent modulation of Chlamydia pneumoniae infection cycle in human monocytic and endothelial cells by iron, tryptophan availability and interferon gamma

Immunobiology (1979), 2010-09, Vol.215 (9), p.842-848

2010

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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

A novel single base pair duplication in WDR62 causes primary microcephaly

Der einfluss von pdgf-bb auf die rekrutierung von reninexprimierenden zellen in der niere

Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

A novel single base pair duplication in WDR62 causes primary microcephaly

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

Germline mutations in the DNA damage response genes BRCA 1, BRCA2, BARD 1 and TP53 in patients with therapy related myeloid neoplasms

Development of renal renin‐expressing cells does not involve PDGF‐B‐PDGFR‐β signaling

Disordered eating symptoms in Austrian men of different ages in the context of fitness centers

Prognostic impact of the post-treatment T cell composition and spatial organization in soft tissue sarcoma patients treated with neoadjuvant hyperthermic radio(chemo)therapy

Timing of antimicrobial prophylaxis for cesarean section is critical for gut microbiome development in term born infants

Early post-discharge mortality in CAP: frequency, risk factors and a prediction tool

The impact of dendrimer-grafted modifications to model silicon surfaces on protein adsorption and bacterial adhesion

Transcriptomic Cross‐Species Analysis of Chronic Liver Disease Reveals Consistent Regulation Between Humans and Mice

Reticulate evolution in diploid and tetraploid species of Polystachya (Orchidaceae) as shown by plastid DNA sequences and low-copy nuclear genes

The Offprint of an Abnormal Pre-Parotidectomy Electrodiagnostic Finding in a Normally Functioning Facial Nerve: Correlation with Intraoperative Findings, Histology and Postoperative Facial Nerve Function

The C-terminal 32-mer fragment of hemoglobin alpha is an amyloidogenic peptide with antimicrobial properties

Nuclear Translocation of RELB Is Increased in Diseased Human Liver and Promotes Ductular Reaction and Biliary Fibrosis in Mice

Early oral switch therapy in low-risk Staphylococcus aureus bloodstream infection (SABATO): study protocol for a randomized controlled trial

Structural changes of the corpus callosum in tinnitus

Surface-immobilized PAMAM-dendrimers modified with cationic or anionic terminal functions: Physicochemical surface properties and conformational changes after application of liquid interface stress

Divergent modulation of Chlamydia pneumoniae infection cycle in human monocytic and endothelial cells by iron, tryptophan availability and interferon gamma

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