Detalhe da pesquisa
1.
Barriers to effective health care for patients who have smell or taste disorders.
Clin Otolaryngol
; 46(6): 1213-1222, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085404
2.
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Hum Mutat
; 41(8): 1407-1424, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383243
3.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
4.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
5.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Am J Hum Genet
; 95(3): 275-84, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25132448
6.
An evaluation of the impact of memory and mood on antiepileptic drug adherence.
Epilepsy Behav
; 43: 61-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561379
7.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A
; 164A(12): 3027-34, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258245
8.
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum Mutat
; 33(3): 457-66, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213154
9.
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 30(4): 420-427, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992252
10.
Qualitative Olfactory Disorders: Patient Experiences and Self-Management.
Allergy Rhinol (Providence)
; 12: 21526567211004251, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34589267
11.
Successful pregnancies and reduced treatment requirement while breast feeding in a patient with congenital hypoparathyroidism due to homozygous c.68C>A null parathyroid hormone gene mutation.
BMJ Case Rep
; 20182018 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29804071
12.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040915
13.
Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype).
Clin Dysmorphol
; 16(4): 223-9, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17786113
14.
A retrospective audit of the characteristics and treatment outcomes in patients with diabetes-related charcot neuropathic osteoarthropathy.
N Z Med J
; 130(1467): 62-67, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240741
15.
Management of Rabies Prophylaxis for Potential Bat Exposures in a Level III Neonatal Intensive Care Unit.
Infect Control Hosp Epidemiol
; 38(4): 483-485, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27989243
16.
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Nat Genet
; 44(8): 910-5, 2012 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22772369
17.
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.
Clin Dysmorphol
; 20(4): 210-213, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785343
18.
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy.
Am J Med Genet A
; 136(1): 81-3, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15889416
19.
Bio-social origins of depression in the community. Interactions between social adversity, cortisol and serotonin neurotransmission.
Br J Psychiatry
; 180: 168-73, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11823330
20.
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
Ann Neurol
; 55(1): 58-64, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14705112