36 results on '"Loring, Erin"'
Search Results
2. American Board of Genetic Counseling
3. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
4. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
5. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
6. Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
7. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
8. CLCN2 chloride channel mutations in familial hyperaldosteronism type II
9. The Genomic and Phenotypic Landscape of Ichthyosis
10. American Board of Genetic Counseling
11. L-histidine decarboxylase and Tourette's syndrome
12. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
13. Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
14. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
15. Hypokalemia Associated With a Claudin 10 Mutation: A Case Report
16. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
17. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
18. A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
19. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
20. Abstract 24
21. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1c.500A>T missense mutation
22. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
23. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
24. Author response: Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
25. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
26. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
27. Author response: Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
28. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
29. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
30. Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
31. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
32. CLCN2chloride channel mutations in familial hyperaldosteronism type II
33. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
34. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
35. Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS , which Cause Nevus Sebaceus
36. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
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