Works matching DE "MOWAT-Wilson syndrome"
Results: 14
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly.
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- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/6046351
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- Article
Transcriptional Regulator ZEB2 Is Essential for Bergmann Glia Development.
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- Journal of Neuroscience, 2018, v. 38, n. 6, p. 1575, doi. 10.1523/JNEUROSCI.2674-17.2018
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- Article
Transitional health care for patients with Hirschsprung disease and anorectal malformations.
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- Techniques in Coloproctology, 2017, v. 21, n. 7, p. 547, doi. 10.1007/s10151-017-1656-2
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- Article
Hirschsprung's disease in children with Mowat-Wilson syndrome.
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- Pediatric Surgery International, 2015, v. 31, n. 8, p. 711, doi. 10.1007/s00383-015-3732-x
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- Article
Familial hirschsprung's disease: a systematic review.
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- Pediatric Surgery International, 2015, v. 31, n. 8, p. 695, doi. 10.1007/s00383-015-3730-z
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- Article
Per rectal endoscopic myotomy for the treatment of adult Hirschsprung's disease: First human case (with video).
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- Digestive Endoscopy, 2016, v. 28, n. 6, p. 680, doi. 10.1111/den.12689
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- Article
Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients.
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- Pediatric Reports, 2018, v. 10, n. 1, p. 14, doi. 10.4081/pr.2018.7514
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- Article
Enfermedad de Hirschsprung asociada al síndrome de Mowat-Wilson: a propósito de un caso.
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- 2015
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- Case Study
Microcephaly & the Zika Virus.
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- Dialog: Journal of the Texas Educational Diagnosticians Association, 2017, v. 46, n. 1, p. 17
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- Article
Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.
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- 2018
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- journal article
A Diagnosis to Consider in Intellectual Disability.
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- Journal of Child Neurology, 2016, v. 31, n. 7, p. 913, doi. 10.1177/0883073815627884
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- Article
A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities.
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- 2015
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- Case Study
A de novo frameshift mutation in ZEB2 causes polledness, abnormal skull shape, small body stature and subfertility in Fleckvieh cattle.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73807-5
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- Article
Experience of Mowat-Wilson syndrome prenatal diagnosis for a Chinese family.
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- Clinical Case Reports, 2017, v. 5, n. 1, p. 9, doi. 10.1002/ccr3.741
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- Article