Found: 13
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
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- Publication type:
- Article
Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 432, doi. 10.1002/pd.6476
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- Publication type:
- Article
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1481, doi. 10.1002/pd.6249
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- Article
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012–2019).
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 661, doi. 10.1002/pd.5944
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- Publication type:
- Article
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).
- Published in:
- 2021
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- Publication type:
- journal article
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
- Published in:
- Human Genetics, 2020, v. 139, n. 8, p. 1077, doi. 10.1007/s00439-020-02157-z
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- Publication type:
- Article
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073
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- Publication type:
- Article
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
- Published in:
- 2018
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- Publication type:
- journal article
Dermatosparaxis ( Ehlers- Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1122, doi. 10.1002/ajmg.a.35802
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- Publication type:
- Article
Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease.
- Published in:
- 2012
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- Publication type:
- Book Review
Perrault syndrome: further evidence for genetic heterogeneity.
- Published in:
- 2012
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- Publication type:
- Letter
Carole H Browner, H Mabel Prelora: Neurogenetic diagnoses: the power of hope, and the limits of today's medicine.
- Published in:
- 2010
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- Publication type:
- Book Review
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 963, doi. 10.1038/ng2083
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- Publication type:
- Article