Found: 16
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Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956
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- Article
Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): impact on diagnosis and management decision.
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- Neuroradiology, 2009, v. 51, n. 11, p. 761, doi. 10.1007/s00234-009-0549-0
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- Article
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2697, doi. 10.1002/ajmg.a.38393
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- Article
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1089, doi. 10.1002/ajmg.a.37010
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- Article
Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome.
- Published in:
- 2012
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- Publication type:
- Other
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3035, doi. 10.1002/ajmg.a.34078
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- Publication type:
- Article
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
- Published in:
- Nature Medicine, 2011, v. 17, n. 6, p. 726, doi. 10.1038/nm.2380
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- Publication type:
- Article
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
- Published in:
- 2012
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- Publication type:
- journal article
Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2416, doi. 10.1093/brain/aws162
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- Publication type:
- Article
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Brief Report: Ankylosing Spondylitis or Diffuse Idiopathic Skeletal Hyperostosis in Royal Egyptian Mummies of the 18th-20th Dynasties? Computed Tomography and Archaeology Studies.
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- Arthritis & Rheumatology, 2014, v. 66, n. 12, p. 3311, doi. 10.1002/art.38864
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- Publication type:
- Article
Fetal Magnetic Resonance Imaging (MRI): A Tool for a Better Understanding of Normal and Abnormal Brain Development.
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- Journal of Child Neurology, 2013, v. 28, n. 7, p. 890, doi. 10.1177/0883073813486296
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- Publication type:
- Article
Paleoradiological and scientific investigations of the screaming woman mummy from the area beneath Senmut's (1479-1458 BC) Theban tomb (TT71).
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1406225
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- Publication type:
- Article
Computed tomography examination of the screaming mummy "Unknown-Woman-A".
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- Egyptian Journal of Radiology & Nuclear Medicine, 2020, v. 51, n. 1, p. 1, doi. 10.1186/s43055-020-00255-6
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- Article
Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients.
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- Egyptian Journal of Medical Human Genetics, 2009, v. 10, n. 1, p. 13
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- Article
Developmental abnormalities of mid and hindbrain: a study of 23 Egyptian patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2008, v. 9, n. 2, p. 215
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- Publication type:
- Article