Found: 19
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Prenatal features of Noonan syndrome: prevalence and prognostic value.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 10, p. 949, doi. 10.1002/pd.2804
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- Publication type:
- Article
De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphalocele.
- Published in:
- 2000
- By:
- Publication type:
- case study
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Ground deformation reveals the scale-invariant conduit dynamics driving explosive basaltic eruptions.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21722-2
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- Publication type:
- Article
Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy.
- Published in:
- Pediatric Radiology, 2000, v. 30, n. 6, p. 430, doi. 10.1007/s002470050779
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- Publication type:
- Article
A novel H208D TP63 mutation in a familial case of ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome without clefting.
- Published in:
- Clinical & Experimental Dermatology, 2009, v. 34, n. 8, p. e726, doi. 10.1111/j.1365-2230.2009.03451.x
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- Publication type:
- Article
Eyebrow anomalies as a diagnostic sign of genomic disorders.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 1, p. 28, doi. 10.1111/j.1399-0004.2009.01347.x
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- Publication type:
- Article
Hair as a diagnostic tool in dysmorphology.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 4, p. 270, doi. 10.1034/j.1399-0004.2002.620403.x
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- Publication type:
- Article
Ectodermal dysplasias: not only ‘skin’ deep.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x
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- Publication type:
- Article
Lower extremity counterpart of the Poland syndrome.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 1, p. 41, doi. 10.1034/j.1399-0004.1999.550107.x
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- Publication type:
- Article
Autosomal recessive microcephaly with early onset seizures and spasticity.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 3, p. 152, doi. 10.1111/j.1399-0004.1992.tb03228.x
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- Publication type:
- Article
A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 6, p. 293, doi. 10.1111/j.1399-0004.1992.tb03400.x
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- Publication type:
- Article
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 2, p. 87, doi. 10.1111/j.1399-0004.1992.tb03639.x
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- Publication type:
- Article
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
- Published in:
- Clinical Genetics, 1988, v. 34, n. 1, p. 31, doi. 10.1111/j.1399-0004.1988.tb02612.x
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- Publication type:
- Article
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 5, p. 331, doi. 10.1111/j.1399-0004.1987.tb02817.x
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- Publication type:
- Article
Triphalangeal thumb and brachy-ectrodactyly syndrome.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 1, p. 13, doi. 10.1111/j.1399-0004.1987.tb02761.x
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- Publication type:
- Article
Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.
- Published in:
- Clinical Genetics, 1986, v. 30, n. 6, p. 481, doi. 10.1111/j.1399-0004.1986.tb01915.x
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- Publication type:
- Article
The NEU-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 2, p. 201, doi. 10.1111/j.1399-0004.1984.tb00486.x
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- Publication type:
- Article
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.
- Published in:
- Clinical Genetics, 1982, v. 21, n. 5, p. 297, doi. 10.1111/j.1399-0004.1982.tb01375.x
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- Publication type:
- Article