Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 6
Results: 6
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006169
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- Article
Comprehensive molecular characterization of a rare case of Philadelphia chromosome--positive acute myeloid leukemia.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006218
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- Article
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006236
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- Article
Discovery and functional characterization of the oncogenicity and targetability of a novel NOTCH1--ROS1 gene fusion in pediatric angiosarcoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006222
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- Article
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006213
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- Article
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006232
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- Article