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Heterozygous mutations of OTX2 cause severe ocular malformationsSomatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsLethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1Neutrophil elastase mutations in congenital neutropeniaGenetic mosaics and the germ line lineageMammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsRevertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutationEhlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationSomatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypesMosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents.Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.High rate of mosaicism in tuberous sclerosis complex.Mutations in the CHD7 gene: the experience of a commercial laboratoryA two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.Clustered microsatellite mutations in the pipefish Syngnathus typhle.Estimating mutation rate: how to count mutations?Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationTwo novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy familyIn vivo reversion to normal of inherited mutations in humans.Mosaicism in von Hippel-Lindau disease: an event important to recognize.Penetrance and expressivity in the molecular age.Genetic linkage analysis in the presence of germline mosaicismOphthalmological manifestations in segmental neurofibromatosis type 1A balanced t(10;15) translocation in a male patient with developmental language disorder.A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyA novel APC mosaicism in a patient with familial adenomatous polyposis.Understanding what determines the frequency and pattern of human germline mutations.Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.Treatment of asymptomatic catecholaminergic polymorphic ventricular tachycardia.Mosaicism and clinical genetics.At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Germ line mosaicism.
@ast
Germ line mosaicism.
@en
Germ line mosaicism.
@nl
type
label
Germ line mosaicism.
@ast
Germ line mosaicism.
@en
Germ line mosaicism.
@nl
prefLabel
Germ line mosaicism.
@ast
Germ line mosaicism.
@en
Germ line mosaicism.
@nl
P356
P1433
P1476
Germ line mosaicism.
@en
P2093
Zlotogora J
P2888
P304
P356
10.1007/S004390050708
P577
1998-04-01T00:00:00Z
P6179
1008088929