Detalles de la búsqueda
1.
Genotype and phenotype correlation of PHACTR1-related neurological disorders.
J Med Genet
; 61(6): 536-542, 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38272663
2.
Glucocorticoid use and varying doses on the long-term outcomes of offspring born to patients with systemic lupus erythematosus.
Eur J Pediatr
; 183(5): 2231-2238, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38393371
3.
[Association of pregnancy factors with cow's milk protein allergy in infants].
Beijing Da Xue Xue Bao Yi Xue Ban
; 56(1): 144-149, 2024 Feb 18.
Artículo
en Zh
| MEDLINE | ID: mdl-38318909
4.
[Factors influencing the occurrence of small for gestational age at different degrees]. / ä¸åç¨åº¦å°äºèé¾å¿åççå½±åå ç´ åæ.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(3): 262-268, 2024 Mar 15.
Artículo
en Zh
| MEDLINE | ID: mdl-38557378
5.
Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature.
J Pediatr Hematol Oncol
; 44(2): e580-e584, 2022 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34862352
6.
Altered gut microbiota correlates with cognitive impairment in Chinese children with Down's syndrome.
Eur Child Adolesc Psychiatry
; 31(1): 189-202, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33999314
7.
Genetic susceptibility to cow's milk allergy in Chinese children.
Asia Pac J Clin Nutr
; 31(1): 147-155, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35357113
8.
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(6): 565-570, 2022 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35773756
9.
Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China.
Brain
; 143(2): 570-581, 2020 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31953931
10.
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
J Inherit Metab Dis
; 43(3): 409-423, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31622506
11.
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Nephrol Dial Transplant
; 34(3): 502-508, 2019 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29697822
12.
[A case of 10p15.3 microdeletion syndrome detected by whole exome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 331-335, 2019 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30950019
13.
Recombinant Human Erythropoietin Protects Against Hippocampal Damage in Developing Rats with Seizures by Modulating Autophagy via the S6 Protein in a Time-Dependent Manner.
Neurochem Res
; 43(2): 465-476, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29238892
14.
[Research advances of posterior reversible encephalopathy syndrome in children].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(8): 787-91, 2016 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-27530801
15.
[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(5): 691-7, 2014 Oct 18.
Artículo
en Zh
| MEDLINE | ID: mdl-25331388
16.
[Long-term outcome and related factors of epileptic seizures in children].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(2): 315-8, 2014 Apr 18.
Artículo
en Zh
| MEDLINE | ID: mdl-24743829
17.
[Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia].
Beijing Da Xue Xue Bao Yi Xue Ban
; 46(1): 130-7, 2014 Feb 18.
Artículo
en Zh
| MEDLINE | ID: mdl-24535365
18.
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.
Front Neurol
; 15: 1355484, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38550343
19.
A generalized seizure type: Myoclonic-to-tonic seizure.
Clin Neurophysiol
; 164: 24-29, 2024 Apr 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38823261
20.
Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children.
Epilepsy Behav Rep
; 26: 100671, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38708366