Detalhe da pesquisa
1.
Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
PLoS Pathog
; 15(12): e1008168, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31869396
2.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
3.
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
Am J Hum Genet
; 96(4): 640-50, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772934
4.
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
J Allergy Clin Immunol
; 137(4): 1189-1196.e2, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607704
5.
[Multidisciplinary cardiogenetic counselling]. / Consultation multidisciplinaire de cardiogénétique.
Rev Med Suisse
; 13(564): 1094-1099, 2017 May 24.
Artigo
em Francês
| MEDLINE | ID: mdl-28639772
6.
[Patients with variations of sex development : an example of interdisciplinary care]. / Patients avec variation du développement sexuel : un exemple de prise en charge interdisciplinaire.
Rev Med Suisse
; 12(538): 1923-1929, 2016 Nov 09.
Artigo
em Francês
| MEDLINE | ID: mdl-28696598
7.
Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.
BMC Cardiovasc Disord
; 14: 140, 2014 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25291980
8.
[Rare vascular diseases]. / Maladies vasculaires rares.
Rev Med Suisse
; 10(416): 347-50, 352, 2014 Feb 05.
Artigo
em Francês
| MEDLINE | ID: mdl-24624629
9.
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
Nat Commun
; 15(1): 3969, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730242
10.
Two new families with hereditary minimal change disease.
BMC Nephrol
; 14: 65, 2013 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23517548
11.
Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
Am J Dermatopathol
; 35(2): 241-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23542717
12.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
13.
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
BMC Med Genet
; 13: 105, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140321
14.
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
Hum Reprod
; 27(2): 615-24, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22158087
15.
[Are genetic tests useful for cardiovascular prevention?]. / Les tests génétiques peuvent-ils etre utiles pour la prévention cardiovasculaire?
Rev Med Suisse
; 8(331): 519-20, 522-4, 2012 Mar 07.
Artigo
em Francês
| MEDLINE | ID: mdl-22471114
16.
Pheochromocytoma Masked by Mutation in the TH Gene.
Clin Chem
; 62(7): 924-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27354566
17.
Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.
Ann Noninvasive Electrocardiol
; 16(2): 213-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21496174
18.
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Pediatr Crit Care Med
; 12(6): e427-32, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572369
19.
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nat Commun
; 12(1): 5533, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545091
20.
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
Eur J Hum Genet
; 29(3): 365-377, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223530