Detalhe da pesquisa
1.
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Hum Mol Genet;
26(20): 4055-4066, 2017 10 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29016863
2.
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Am J Hum Genet;
96(3): 432-9, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25683121
3.
Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.
Pediatr Nephrol;
33(7): 1275-1276, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29637271
4.
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Pediatr Nephrol;
32(12): 2263-2271, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28711958
5.
[Supporting Early Childhood Teacher's Competences in the Encounter with Refugee Children and their Families]. / Die Unterstützung der Kompetenzentwicklung von Kita-Teams in der Begegnung mit Kindern und Familien mit Fluchterfahrung.
Prax Kinderpsychol Kinderpsychiatr;
66(4): 259-276, 2017 Apr.
Artigo
em Alemão
| MEDLINE
| ID: mdl-28393644
6.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Hum Mutat;
37(9): 847-64, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27302555
7.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Hum Mol Genet;
23(16): 4396-405, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24705355
8.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet;
92(4): 565-74, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23499309
9.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Am J Hum Genet;
91(2): 349-57, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22863195
10.
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Am J Hum Genet;
90(4): 661-74, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22482805
11.
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
Am J Hum Genet;
88(3): 362-71, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21353196
12.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Am J Med Genet A;
173(3): 806-808, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27901313
13.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Am J Hum Genet;
82(2): 464-76, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18252226
14.
Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial.
Front Aging Neurosci;
10: 407, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30618714
15.
Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology;
95(3): 145, 2020 07 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32690781
16.
Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.
Front Aging Neurosci;
7: 187, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26528177
17.
Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology;
93(6): 267-269, 2019 Aug 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31235659
18.
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
J Bone Miner Res;
29(6): 1387-91, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24293101
19.
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).
Eur J Med Genet;
54(5): e495-500, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21722758