Found: 18
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Neonatal manifestation of multiple sulfatase deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0113-9
- By:
- Publication type:
- Article
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Recombinant mouse cytomegalovirus expressing a ligand for the NKG2D receptor is attenuated and has improved vaccine properties.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Genome sequencing in families with congenital limb malformations.
- Published in:
- Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
- By:
- Publication type:
- Article
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2404, doi. 10.1002/ajmg.a.37791
- By:
- Publication type:
- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
- Published in:
- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
- By:
- Publication type:
- Article
Präimplantationsdiagnostik.
- Published in:
- Medizinische Genetik, 2016, v. 28, n. 3, p. 304, doi. 10.1007/s11825-016-0096-0
- By:
- Publication type:
- Article
JUST ANOTHER FORM OF IDEOLOGY?
- Published in:
- Moving Image (15323978), 2006, v. 6, n. 2, p. 1, doi. 10.1353/mov.2007.0002
- By:
- Publication type:
- Article
Filmmuseum Biennale.
- Published in:
- Moving Image (15323978), 2006, v. 6, n. 1, p. 167, doi. 10.1353/mov.2006.0004
- By:
- Publication type:
- Article
ANKRD11 variants: KBG syndrome and beyond.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
- By:
- Publication type:
- Article
Nodular Inflammatory Foci Are Sites of T Cell Priming and Control of Murine Cytomegalovirus Infection in the Neonatal Lung.
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.ppat.1003828
- By:
- Publication type:
- Article
Ablation of the Regulatory IE1 Protein of Murine Cytomegalovirus Alters In Vivo Pro-inflammatory TNF-alpha Production during Acute Infection.
- Published in:
- PLoS Pathogens, 2012, v. 8, n. 8, p. 1, doi. 10.1371/journal.ppat.1002901
- By:
- Publication type:
- Article
Phenotypes of major immediate-early gene mutants of mouse cytomegalovirus.
- Published in:
- Medical Microbiology & Immunology, 2008, v. 197, n. 2, p. 233, doi. 10.1007/s00430-008-0076-3
- By:
- Publication type:
- Article
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
- By:
- Publication type:
- Article
Variants in CUL4B are Associated with Cerebral Malformations.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 106, doi. 10.1002/humu.22718
- By:
- Publication type:
- Article
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
- By:
- Publication type:
- Article
Immunodominant PstS1 antigen of mycobacterium tuberculosis is a potent biological response modifier for the treatment of bladder cancer.
- Published in:
- BMC Cancer, 2004, v. 4, p. 1, doi. 10.1186/1471-2407-4-86
- By:
- Publication type:
- Article