Detalhe da pesquisa
1.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
2.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
3.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
4.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
5.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647
6.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106414
7.
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Am J Med Genet A
; 164A(5): 1277-83, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664804
8.
Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.
Neuropediatrics
; 48(1): 57-58, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024310
9.
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
Pediatr Nephrol
; 27(7): 1197-200, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22415584
10.
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer.
Swiss Med Wkly
; 151: w30038, 2021 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519462
11.
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Eur J Obstet Gynecol Reprod Biol
; 252: 19-29, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619881
12.
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
Swiss Med Wkly
; 149: w20092, 2019 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422574
13.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
14.
Special form of osteoporosis in a 53-year-old man.
BMJ Case Rep
; 11(1)2018 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30567240
15.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur J Hum Genet
; 26(2): 197-209, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321670
16.
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Mol Syndromol
; 8(5): 266-271, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878611
17.
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Invest Ophthalmol Vis Sci
; 58(10): 3840-3850, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763557
18.
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Eur J Hum Genet
; 23(5): 602-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099252
19.
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Eur J Hum Genet
; 21(10): 1100-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403903
20.
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Eur J Hum Genet
; 18(12): 1315-21, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20648054