Detalhe da pesquisa
1.
Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS).
Acta Psychiatr Scand
; 2023 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38110225
2.
Smoking during pregnancy: changes and associated risk factors in Spain, 1980-2016.
J Public Health (Oxf)
; 44(2): 438-446, 2022 06 27.
Artigo
Inglês
| MEDLINE | ID: mdl-33522592
3.
A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy.
Am J Perinatol
; 2022 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35644130
4.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci
; 23(16)2022 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36012761
5.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Am J Med Genet A
; 185(3): 877-883, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33346930
6.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32579715
7.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Hum Mutat
; 41(1): 265-276, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31549748
8.
Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014.
Alcohol Clin Exp Res
; 43(11): 2367-2373, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31509616
9.
Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.
Paediatr Perinat Epidemiol
; 33(6): 436-448, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31637749
10.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
11.
Congenital Anomalies: Cluster Detection and Investigation.
Adv Exp Med Biol
; 1031: 535-557, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29214591
12.
Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns.
Neuroepidemiology
; 47(3-4): 155-163, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27883994
13.
Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.
Am J Med Genet A
; 167A(9): 2034-41, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25899082
14.
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Am J Med Genet A
; 167(6): 1243-51, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25899426
15.
Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.
Am J Med Genet A
; 164A(3): 639-47, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24357464
16.
Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.
Am J Med Genet A
; 164A(2): 338-45, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24311462
17.
Join World Birth Defects Day.
Pediatr Res
; 86(1): 3-4, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30965352
18.
Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.
Birth Defects Res
; 116(2): e2306, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38411327
19.
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Am J Med Genet A
; 161A(9): 2281-90, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23894067
20.
Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.
Birth Defects Res A Clin Mol Teratol
; 97(12): 781-5, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24307594