Detalles de la búsqueda
1.
[Clinical characteristics and related factors of acute tubular necrosis in patients with minimal change disease].
Zhonghua Yi Xue Za Zhi
; 100(44): 3494-3497, 2020 Dec 01.
Artículo
en Zh
| MEDLINE | ID: mdl-33256290
2.
Nontyphoidal salmonella urinary tract infection in a case of hyperparathyroidism and nephrocalcinosis.
West Indian Med J
; 63(1): 94-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25303182
3.
Discriminant analysis for anaesthetic decision-making: an intelligent recognition system for epidural needle insertion.
Br J Anaesth
; 108(2): 302-7, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22157847
4.
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Genet Couns
; 23(4): 447-55, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431743
5.
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
Genet Couns
; 23(4): 497-503, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23431751
6.
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
Genet Couns
; 23(3): 359-65, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072183
7.
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Genet Couns
; 23(2): 195-200, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876577
8.
Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.
Genet Couns
; 23(2): 201-6, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876578
9.
Pure distal 9p deletion in a female infant with cerebral palsy.
Genet Couns
; 23(2): 215-21, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876580
10.
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
Genet Couns
; 23(2): 223-9, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22876581
11.
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.
Genet Couns
; 23(1): 1-7, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22611635
12.
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
Genet Couns
; 23(3): 405-13, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23072190
13.
Strategic management of behavioural change in type 2 diabetic patients.
Public Health
; 126(1): 18-24, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22123456
14.
Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Genet Couns
; 22(4): 425-30, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22303804
15.
A 24.2-Mb deletion of 4q12 --> q21.21 characterized by array CGH in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty.
Genet Couns
; 22(3): 255-61, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029166
16.
Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses.
Genet Couns
; 22(3): 273-80, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22029168
17.
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
J Inherit Metab Dis
; 32(4): 534-43, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19597960
18.
Burden of syphilis infections in Shenzhen, China: a preliminary estimation.
Int J STD AIDS
; 20(2): 115-8, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19182058
19.
A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene.
Genet Couns
; 24(2): 243-6, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24032297
20.
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.
Genet Couns
; 19(2): 165-72, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18618990