Search details
1.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Clin Genet
; 103(6): 699-703, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36807241
2.
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Clin Genet
; 99(2): 226-235, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33089500
3.
Inclusion of pregnant and breastfeeding women in research - efforts and initiatives.
Br J Clin Pharmacol
; 84(2): 215-222, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28925019
4.
Placental origins of adverse pregnancy outcomes: potential molecular targets: an Executive Workshop Summary of the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Am J Obstet Gynecol
; 215(1 Suppl): S1-S46, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-26972897
5.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Ophthalmology
; 120(7): 1324-36, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23601806
6.
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
J Med Genet
; 48(11): 767-75, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21940737
7.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Mol Genet Metab
; 103(4): 307-14, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21620748
8.
Neurofibromatosis type 2.
Lancet
; 373(9679): 1974-86, 2009 Jun 06.
Article
in English
| MEDLINE | ID: mdl-19476995
9.
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Ophthalmology
; 117(3): 615-22, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20022637
10.
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Am J Med Genet A
; 152A(6): 1474-83, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20503323
11.
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Mol Genet Metab
; 97(3): 227-33, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19398212
12.
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
J Pediatr
; 155(3): 386-92.e1, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19540516
13.
Dyskeratosis congenita: the first NIH clinical research workshop.
Pediatr Blood Cancer
; 53(3): 520-3, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19415736
14.
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Hum Mutat
; 29(4): 502-11, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18181211
15.
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.
Surv Ophthalmol
; 52(1): 97-105, 2007.
Article
in English
| MEDLINE | ID: mdl-17212992
16.
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.
Ophthalmology
; 113(6): 1002-9, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16603246
17.
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
Ophthalmic Genet
; 26(3): 135-8, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-16272059
18.
Eye movement abnormalities in hermansky-pudlak syndrome.
J AAPOS
; 9(4): 369-78, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-16102489
19.
Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography.
Am J Ophthalmol
; 134(1): 123-5, 2002 Jul.
Article
in English
| MEDLINE | ID: mdl-12095822
20.
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy.
J Cataract Refract Surg
; 30(7): 1593-4, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15210246