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Publication : european journal of human genetics
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Academic Journal

5q11.2 deletion in a patient with tracheal agenesis.

Subjects: *COHORT analysis; *TRACHEAL cartilage; *CONNECTIVE tissues

  • Source: European Journal of Human Genetics. Nov2010, Vol. 18 Issue 11, p1265-1268. 4p. 1 Diagram, 1 Chart.

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Academic Journal

Redefining the MED13L syndrome.

Subjects: CONGENITAL heart disease; NEURODEVELOPMENTAL treatment; PROTEINS

  • Source: European Journal of Human Genetics. Oct2015, Vol. 23 Issue 10, p1308-1317. 10p.

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Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.

Subjects: CHROMOSOME abnormalities; MICROARRAY technology; PRENATAL care

  • Source: European Journal of Human Genetics. Jul2013, Vol. 21 Issue 7, p725-730. 6p. 2 Charts.

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Academic Journal

Defective protein glycosylation in patients with cutis laxa syndrome.

Subjects: PROTEINS; GLYCOSYLATION; GENETIC disorders

  • Source: European Journal of Human Genetics. Apr2005, Vol. 13 Issue 4, p414-421. 8p.

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Academic Journal

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Subjects: DELETION mutation; HYPOSPADIAS; CHROMOSOMES

  • Source: European Journal of Human Genetics. Aug2012, Vol. 20 Issue 8, p852-856. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.

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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Subjects: PRENATAL diagnosis; GENETIC counseling; CHROMOSOME abnormalities

  • Source: European Journal of Human Genetics. Dec2011, Vol. 19 Issue 12, p1230-1237. 8p. 1 Diagram, 2 Charts, 2 Graphs.

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Academic Journal

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Subjects: MOSAICISM; X chromosome; DIAGNOSIS

  • Source: European Journal of Human Genetics. Oct2009, Vol. 17 Issue 10, p1207-1215. 9p. 1 Color Photograph, 2 Charts, 2 Graphs.

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Academic Journal

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Subjects: MOLECULAR cloning; PHENOTYPES; INTESTINAL abnormalities

  • Source: European Journal of Human Genetics. Apr2009, Vol. 17 Issue 4, p434-443. 10p. 2 Black and White Photographs, 2 Charts.

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Academic Journal

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome.

Subjects: HIRSCHSPRUNG'S disease; KARYOTYPES; FIBROBLASTS

  • Source: European Journal of Human Genetics. Sep2005, Vol. 13 Issue 9, p1013-1018. 6p.

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Academic Journal

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.

Subjects: MOSAICISM; GENETICS; CHROMOSOMES

  • Source: European Journal of Human Genetics; Mar1998, Vol. 6 Issue 2, p140, 5p

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  • 1-10 of  10 results for ""Single Umbilical Artery""