about
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaPLS3 mutations in X-linked osteoporosis with fracturesCombined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisHuman pepsinogen C (progastricsin) polymorphism: evidence for a single locus located at 6p21.1-pterX-linked inheritance of Fanconi anemia complementation group BMutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsBiallelic inactivation of BRCA2 in Fanconi anemiaIncomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia.A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing.Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer.BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutationInflammation aggravates disease severity in Marfan syndrome patients.Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.Searching for preeclampsia genes: the current position.The revised role of TGF-β in aortic aneurysms in Marfan syndromeSMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.Neonatal Marfan syndrome: clinical report and review of the literature.Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.The genetic basis of pachyonychia congenita.Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.Gastric chief cell-specific transcription of the pepsinogen A gene.The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutationsBeneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition.Establishing a molecular continuum in breast cancer DNA microarrays and benign breast disease.RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva.EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Genotype impacts survival in Marfan syndrome.Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma.High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.Genetic variation in parotid basic proteins (Pb) in the Bozo (Mali, West Africa).
P50
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P50
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wetenschapper
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հետազոտող
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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Gerard Pals
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P106
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7004312183
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P31
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0000-0003-4091-7115