21 results on '"Lifton, Richard P"'
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2. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
3. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
4. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
5. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
6. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
7. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
8. Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
9. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
10. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
11. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
12. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
13. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
14. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
15. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
16. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
17. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
18. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
19. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13
20. Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
21. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34
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