Search

Your search keyword '"Lifton, Richard P."' showing total 87 results

Search Constraints

Start Over You searched for: Author "Lifton, Richard P." Remove constraint Author: "Lifton, Richard P." Publisher elsevier bv Remove constraint Publisher: elsevier bv
87 results on '"Lifton, Richard P."'

Search Results

1. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

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

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

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

35. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus

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

50. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

Catalog

Books, media, physical & digital resources