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COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 601, doi. 10.1002/pd.6113
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- Article
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 462, doi. 10.1111/cge.14021
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- Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
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- Article
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
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- Human Mutation, 2020, v. 41, n. 5, p. 926, doi. 10.1002/humu.23998
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- Article
Histoanatomical structures of laryngeal atresia: Functional considerations.
- Published in:
- 2020
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- Publication type:
- journal article
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
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- Article
Perinatal outcome of placental massive perivillous fibrin deposition: a case-control study.
- Published in:
- 2017
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- Publication type:
- journal article
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005894
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- Article
Curative surgery for placental site trophoblastic tumors.
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- International Journal of Gynecology & Obstetrics, 2015, v. 130, n. 1, p. 84, doi. 10.1016/j.ijgo.2015.01.006
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- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
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- Article
Fetal phenotype associated with the 22q11 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2724, doi. 10.1002/ajmg.a.36720
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- Article
C5orf42 is the major gene responsible for OFD syndrome type VI.
- Published in:
- Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1
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- Article
SALL4 is a marker of the embryonal subtype of hepatoblastoma.
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- Histopathology, 2013, v. 63, n. 3, p. 425, doi. 10.1111/his.12187
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- Article
Phenotypic variability of prenatally presenting Gaucher's disease.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 10, p. 1004, doi. 10.1002/pd.4171
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- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
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- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Article
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
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- Publication type:
- Article
A case-control study of placental lesions associated with pre-eclampsia.
- Published in:
- 2013
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- Publication type:
- journal article
A case–control study of placental lesions associated with pre-eclampsia
- Published in:
- International Journal of Gynecology & Obstetrics, 2013, v. 120, n. 2, p. 165, doi. 10.1016/j.ijgo.2012.08.023
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- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Article
Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis.
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- Human Reproduction, 2011, v. 26, n. 10, p. 2651, doi. 10.1093/humrep/der265
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- Publication type:
- Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
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- Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
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- Publication type:
- Article
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.
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- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1064, doi. 10.1002/pd.2338
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- Article
Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy.
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- Prenatal Diagnosis, 2009, v. 29, n. 2, p. 187, doi. 10.1002/pd.2214
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- Publication type:
- Article
Prenatal and early postnatal morphogenesis and growth of human laryngotracheal structures.
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- Journal of Anatomy, 2008, v. 213, n. 2, p. 86, doi. 10.1111/j.1469-7580.2008.00935.x
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- Article
Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array.
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- Fetal Diagnosis & Therapy, 2006, v. 21, n. 6, p. 485, doi. 10.1159/000095658
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- Article
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
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- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 340, doi. 10.1002/pd.1412
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- Publication type:
- Article
Role of fetal ultrasound and magnetic resonance imaging in the prenatal diagnosis of migration disorders.
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- Prenatal Diagnosis, 2005, v. 25, n. 13, p. 1181, doi. 10.1002/pd.1133
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- Publication type:
- Article
HISTOLOGIC STRUCTURE AND DEVELOPMENT OF THE LARYNGEAL MACULA FLAVA.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2004, v. 113, n. 6, p. 498, doi. 10.1177/000348940411300615
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- Publication type:
- Article
Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 5, p. 262, doi. 10.1007/s00431-002-0927-7
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- Article
From normal respiratory mucosa to epidermoid carcinoma: Expression of human mucin genes.
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- International Journal of Cancer, 2000, v. 86, n. 2, p. 162, doi. 10.1002/(SICI)1097-0215(20000415)86:2<162::AID-IJC3>3.0.CO;2-R
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- Publication type:
- Article