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Mikrobiomveränderungen in Gallengangsstents bei Patienten mit Gallengangserkrankungen
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Systematische Analyse von microRNA als potenzielle Biomarker im Stuhl und ein neuer Ansatz zur endogenen miRNA-Normalisierung
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Veränderungen des mukosalen Mikrobioms bei Patienten mit Anastomoseninsuffizienz nach Resektion von kolorektalen Karzinomen
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Clinical outcome and quality of life of multimodal treatment of extracranial arteriovenous malformations - the APOLLON study protocol
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Editorial - endocrine aspects of Noonan syndrome and related syndromes
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In-vitro-Modellierung der Noonan-Syndrom-assoziierten Kardiomyopathie - Neue Einblicke in die myokardiale Pathophysiologie und Effekte der Inhibition des hyperaktiven RAS/MAPK-Signalwegs - In vitro modeling of Noonan syndrome-associated cardiomyopathy - new insights into the myocardial pathophysiology and effects of inhibition of the hyperactive RAS/MAPK signaling pathway
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Staphylococcus aureus and Bifidobacterium longum are well recognized by T-cells with opposite results
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1
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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
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Modelling Johanson-Blizzard syndrome in a dish
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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
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KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
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Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation
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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene
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Rare diagnosis of autosomal-recessive Pitt-Hopkins-like syndrome 2 by microarray-analysis
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Scientific yield of clinical exome sequencing of neurodevelopmental disorders
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Unravelling the genetic architecture in an extensive cohort of Adams-Oliver syndrome patients
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[18]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
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A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability
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ADA2 deficiency in a patient with Noonan syndromelike disorder with loose anagen hair - the cooccurrence of two rare syndromes
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Activating mutations of RRAS2 are a rare cause of Noonan syndrome
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Adams-Oliver syndrome caused by mutations of the EOGT gene
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Food-derived xeno-microRNAs - influence of diet and detectability in gastrointestinal tract : proof-of-principle study
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Genetic basis of hypertrophic cardiomyopathy in children
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Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
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Noonan syndrome and clinically related disorders
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Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
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Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
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Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
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Vom Noonan-Syndrom bis zur Neurofibromatose - Erkrankungen des RAS-MAPK-Signalweges
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A restricted spectrum of NRAS mutations causes Noonan syndrome
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Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype
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Mutational analysis of SHOC2, a novel gene for Noonan-like syndrome, in JMML. Correspondence
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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Mutations in the human laminin [beta]2 (LAMB2) gene and the associated phenotypic spectrum
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Phenotype and natural history in Marshall-Smith syndrome
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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I
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Neuro-kardio-fazio-kutane Syndrome - überlappende Phänotypen mit gemeinsamem molekularem Signalweg - interdisziplinäres Betreuungskonzept
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
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A restricted spectrum of NRAS mutations causes Noonan Syndrome.
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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
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Craniosynostosis in patient with Noonan syndrome caused by germline KRAS mutation.
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Futher clinical and molecular delineation of the 9q Subtelomeric Deletion _Syndrome syports a major contributation of EHMT1 haploinsufficiency to the core phenotype.
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Genetic and pathogenetic aspects of Noonan syndrome and related disorders
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Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
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Genomic duplikation of PTPN11 is an uncommon cause of Noonan syndrome.
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Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
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Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrom.
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Infantile hypophosphatasie due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
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Multiple giant cell lesions in patient with Noonan syndrome and cardio-facio-cutaneous syndrome
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
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Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report.
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SMARCAL1 mutation; A cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
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The spectra of clinical phenotypes in aplasia curtis congentia and terminal transverse limb defects.
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