86 results on '"Lifton, Richard P"'
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2. Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia
3. Centers for Mendelian Genomics: A decade of facilitating gene discovery
4. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
5. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
6. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
7. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
8. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
9. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
10. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
11. Insights into genetics, human biology and disease gleaned from family based genomic studies
12. Monogenic causes of chronic kidney disease in adults
13. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
14. Mutations in PERP Cause Dominant and Recessive Keratoderma
15. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
16. Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus
17. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
18. C-terminally truncated, kidney-specific variants of the WNK4 kinase lack several sites that regulate its activity
19. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders
20. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
21. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
22. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
23. Pioneering a Global Cure for Chronic Hepatitis C Virus Infection
24. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
25. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
26. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
27. Genes and environment in neonatal intraventricular hemorrhage
28. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
29. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
30. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
31. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
32. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
33. Maternal Race, Demography, and Health Care Disparities Impact Risk for Intraventricular Hemorrhage in Preterm Neonates
34. Mineralocorticoid Receptor Phosphorylation Regulates Ligand Binding and Renal Response to Volume Depletion and Hyperkalemia
35. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
36. Liver Transplantation: From Inception to Clinical Practice
37. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
38. Low Density Lipoprotein (LDL) Receptor-related Protein 6 (LRP6) Regulates Body Fat and Glucose Homeostasis by Modulating Nutrient Sensing Pathways and Mitochondrial Energy Expenditure
39. WNK2 Kinase Is a Novel Regulator of Essential Neuronal Cation-Chloride Cotransporters
40. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
41. AMP-activated Protein Kinase (AMPK) Activation and Glycogen Synthase Kinase-3β (GSK-3β) Inhibition Induce Ca2+-independent Deposition of Tight Junction Components at the Plasma Membrane
42. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
43. Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locus
44. Sites of Regulated Phosphorylation that Control K-Cl Cotransporter Activity
45. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
46. Lasker Award to Heart Valve Pioneers
47. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
48. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
49. Clinical and Genetic Correlates of Serum Aldosterone in the Community: The Framingham Heart Study
50. ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor
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