Found: 14
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Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach.
- Published in:
- Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 50, doi. 10.2350/11-04-1020-OA.1
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- Article
Actin isoform expression patterns in adult extracardiac and cardiac rhabdomyomas indicate a different cell of origin.
- Published in:
- 2017
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- Publication type:
- journal article
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828
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- Article
Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1694, doi. 10.1002/ajmg.a.38209
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- Article
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101
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- Article
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03106-z
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- Article
Human parvovirus B19 infection causing discrepant prenatal findings and outcome in monochorionic diamniotic twins.
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- Case Reports in Perinatal Medicine, 2014, v. 3, n. 1, p. 65, doi. 10.1515/crpm-2013-0040
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- Article
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02617-5
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- Publication type:
- Article
Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern.
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- Birth Defects Research, 2020, v. 112, n. 2, p. 175, doi. 10.1002/bdr2.1620
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- Article
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
- Published in:
- 2013
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- Publication type:
- journal article
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 1, p. 75, doi. 10.1002/pd.4012
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- Publication type:
- Article
Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.
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- Prenatal Diagnosis, 2012, v. 32, n. 2, p. 173, doi. 10.1002/pd.2928
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- Publication type:
- Article
Fetal Manifestation of the Fine-Lubinsky Syndrome.
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- Fetal Diagnosis & Therapy, 2008, v. 23, n. 3, p. 228, doi. 10.1159/000116746
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- Publication type:
- Article
Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 6, p. 1077, doi. 10.1002/jbmr.4277
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- Publication type:
- Article