Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. - Wikidata - awgldk - TriplyDB

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

http://www.wikidata.org/entity/Q33598268

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Germline mosaicism in X-linked myotubular myopathy On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.Recurrence risk for germinal mosaics revisited.The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.Germinal mosaicism and risk calculation in X-linked diseases.Genetic linkage analysis in the presence of germline mosaicism Mental retardation and early onset of weakness in a girl with a dystrophinopathy and a large Xp21-23 deletion.CUGC for Duchenne muscular dystrophy (DMD).

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Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

http://www.wikidata.org/entity/Q33598268

description

1990 nî lūn-bûn

@nan

1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1990 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1990年の論文

@ja

1990年論文

@yue

1990年論文

@zh-hant

1990年論文

@zh-hk

1990年論文

@zh-mo

1990年論文

@zh-tw

1990年论文

@wuu

name

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

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Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

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type

label

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

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Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

@en

prefLabel

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

@ast

Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

@en

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Journal of Medical Genetics

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Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

@en

P2093

Grimm T

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Janka M

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Müller B

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Müller CR

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P2860

Easy calculations of lod scores and genetic risks on small computers

Possible gonadal mosaicism in a family with hemoglobin Köln.

Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Achondroplasia in sibs of normal parents.

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.

Dominant ectrodactyly and possible germinal mosaicism

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders.

Recurrence risks for germinal mosaics.

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683-687

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scholarly article

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10.1136/JMG.27.11.683

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11

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27

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1990-11-01T00:00:00Z

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20879464

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2277383

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