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Ser<sup>16</sup><sup>5</sup> of Transmembrane Helix IV Is Not Involved in the Interaction of Catecholamines with the Alpha-2a-Adrenoceptor.
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- Pharmacology, 1997, v. 55, n. 1, p. 18, doi. 10.1159/000139508
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- Article
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
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- 2004
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- Publication type:
- journal article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110
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- Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8607, doi. 10.3390/ijms22168607
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- Article
The Importance of the α<sub>2</sub>MR/LRP for Human Genetics.
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- Annals of the New York Academy of Sciences, 1994, v. 737, n. 1, p. 447, doi. 10.1111/j.1749-6632.1994.tb44336.x
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- Article
Präimplantationsdiagnostik und Polkorperdiagnostik.
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- Journal of Laboratory Medicine / Laboratoriums Medizin, 2007, v. 31, n. 4, p. 186, doi. 10.1515/JLM.2007.030
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- Article
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
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- Human Genetics, 2010, v. 127, n. 5, p. 555, doi. 10.1007/s00439-010-0797-4
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- Article
Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg.
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- Medizinische Genetik, 2019, v. 31, n. 3, p. 266, doi. 10.1007/s11825-019-00263-6
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- Article
Präimplantationsdiagnostik - methodische Aspekte.
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- Medizinische Genetik, 2016, v. 28, n. 3, p. 332, doi. 10.1007/s11825-016-0103-5
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- Article
Präimplantationsdiagnostik.
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- Medizinische Genetik, 2014, v. 26, n. 4, p. 417, doi. 10.1007/s11825-014-0018-y
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- Article
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
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- Annals of Neurology, 2007, v. 62, n. 6, p. 656, doi. 10.1002/ana.21310
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- Article
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 3, p. 323
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- Publication type:
- Article