87 results on '"Lifton, Richard P."'
Search Results
2. De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly
3. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
4. The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus
5. Whole Exome Sequencing Reveals Damaging Gene Variants Associated with Hypoalphalipoproteinemia.
6. Centers for Mendelian Genomics: A decade of facilitating gene discovery
7. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
8. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
9. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
10. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
11. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
12. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
13. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
14. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
15. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
16. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
17. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
18. Insights into genetics, human biology and disease gleaned from family based genomic studies
19. Monogenic causes of chronic kidney disease in adults
20. Hypokalemia Associated With a Claudin 10 Mutation: A Case Report
21. Mutations in PERP Cause Dominant and Recessive Keratoderma
22. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
23. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
24. Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus
25. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
26. C-terminally truncated, kidney-specific variants of the WNK4 kinase lack several sites that regulate its activity
27. ULK1 Phosphorylates and Regulates Mineralocorticoid Receptor
28. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
29. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders
30. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
31. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
32. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
33. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
34. Potassium depletion stimulates Na-Cl cotransporter via phosphorylation and inactivation of the ubiquitin ligase Kelch-like 3
35. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
36. Pioneering a Global Cure for Chronic Hepatitis C Virus Infection
37. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
38. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
39. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
40. Genes and environment in neonatal intraventricular hemorrhage
41. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
42. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
43. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
44. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
45. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
46. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
47. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
48. Maternal Race, Demography, and Health Care Disparities Impact Risk for Intraventricular Hemorrhage in Preterm Neonates
49. Su1894 Exome Sequencing of Formalin Fixed Paraffin Embedded Pancreatic Ductal Adenocarcinoma Samples Expands Mutational Landscape and Identifies Hypermutator Phenotype
50. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
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