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Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 363, doi. 10.15252/emmm.201506106
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- Article
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006657
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- Article
Contribution of Rare Copy Number Variants to Isolated Human Malformations.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0045530
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- Article
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
- Published in:
- Human Genetics, 2012, v. 131, n. 3, p. 513, doi. 10.1007/s00439-011-1095-5
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- Publication type:
- Article
Provision of Genetic Services for Autism and its Impact on Spanish Families.
- Published in:
- Journal of Autism & Developmental Disorders, 2017, v. 47, n. 10, p. 2947, doi. 10.1007/s10803-017-3203-4
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- Article
Erratum zu: Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa.
- Published in:
- 2022
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- Publication type:
- Erratum
Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 1, p. 81, doi. 10.1515/medgen-2022-2116
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- Publication type:
- Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079
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- Publication type:
- Article