Detalhe da pesquisa
1.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
2.
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum Genet
; 140(8): 1157-1168, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33959807
3.
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
4.
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Neuropediatrics
; 50(6): 378-381, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319422
5.
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
Neuropediatrics
; 49(6): 379-384, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30165711
6.
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Am J Med Genet A
; 173(8): 2132-2138, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574232
7.
The flexion withdrawal reflex increases in premature infants at 22-26 weeks of gestation due to changes in spinal cord excitability.
Acta Paediatr
; 106(7): 1079-1084, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28370492
8.
Oligoclonal bands predict multiple sclerosis in children with optic neuritis.
Ann Neurol
; 77(6): 1076-82, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820181
9.
Inter- and Intrarater Reliability of the Infant Motor Profile in 3- to 18-Month-Old Infants.
Pediatr Phys Ther
; 28(2): 217-22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26901537
10.
Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins.
Epilepsia
; 54(3): 543-50, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23216622
11.
Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany.
Int J Neonatal Screen
; 9(4)2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873852
12.
Baclofen intoxication: a "fun drug" causing deep coma and nonconvulsive status epilepticus--a case report and review of the literature.
Eur J Pediatr
; 171(10): 1541-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22729246
13.
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Hum Genet
; 129(1): 45-50, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967465
14.
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
Mol Vis
; 17: 1978-86, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850172
15.
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Brain Dev
; 43(2): 320-324, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158637
16.
High and low birth weight and its implication for growth and bone development in childhood and adolescence.
J Pediatr Endocrinol Metab
; 22(1): 19-30, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344071
17.
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604777
18.
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
Mol Cell Pediatr
; 3(1): 22, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27317552
19.
Therapy of the neonatal abstinence syndrome with tincture of opium or morphine drops.
Drug Alcohol Depend
; 77(1): 31-6, 2005 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-15607839
20.
Diagnostic value of electromyography in children and adolescents.
J Clin Neurophysiol
; 22(1): 43-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15689712