Found: 28
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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
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- Publication type:
- Article
Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 10, p. 1019, doi. 10.1515/jpem.2005.18.10.1019
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- Publication type:
- Article
Branchio-Oculo-Facial Syndrome and Dermal Thymus: Case Report and Review of the Literature.
- Published in:
- Pediatric Dermatology, 1995, v. 12, n. 1, p. 24, doi. 10.1111/j.1525-1470.1995.tb00119.x
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- Publication type:
- Article
Subgaleal hematoma in a child with Sturge–Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?
- Published in:
- Child's Nervous System, 2008, v. 24, n. 12, p. 1479, doi. 10.1007/s00381-008-0662-0
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- Publication type:
- Article
Early fatal course in three brothers with FG syndrome.
- Published in:
- Clinical Pediatrics, 1996, v. 35, n. 7, p. 365, doi. 10.1177/000992289603500706
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- Publication type:
- Article
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
- Published in:
- Glycobiology, 2005, v. 15, n. 12, p. 1268, doi. 10.1093/glycob/cwj021
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- Publication type:
- Article
Quantitative analysis of upright standing in adults with late-onset Pompe disease.
- Published in:
- Scientific Reports, 2016, p. 37040, doi. 10.1038/srep37040
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- Publication type:
- Article
Ernst Bernhard ed Edoard Weiss. Le origini della psicologia del profondo in Italia oltre ogni confine.
- Published in:
- Studi Junghiani, 2017, v. 23, n. 1, p. 35, doi. 10.3280/JUN2017-045003
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- Publication type:
- Article
A Jungian Life.
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- Studi Junghiani, 2016, v. 22, n. 1, p. 133
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- Publication type:
- Article
Considerazioni intorno al rapporto fra Eliade e Jung alla luce della corrispondenza.
- Published in:
- 2014
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- Publication type:
- Essay
Liver transplantation in a child with celiac disease.
- Published in:
- Journal of Gastroenterology & Hepatology, 2005, v. 20, n. 6, p. 956, doi. 10.1111/j.1440-1746.2005.03223.x
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- Publication type:
- Article
Nonconvulsive Status Epilepticus Complicating Epstein-Barr Virus Encephalitis in a Child.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Mucopolysaccharidosis VI: the Italian experience.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and lateonset autoimmune inflammatory response.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1536, doi. 10.1002/ajmg.a.34070
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- Publication type:
- Article
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9500
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- Publication type:
- Article
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9233
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- Publication type:
- Article
The theory of the 'mana personality' in Jung's works: a historic-hermeneutic perspective. Part II.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The construct of the 'mana personality' in Jung's works: a historic-hermeneutic perspective. Part I.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
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- Publication type:
- Article
Cover Image, Volume 38, Issue 4.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
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- Publication type:
- Article
Cutaneous Vasculitis Associated With Mycoplasma Pneumoniae Infection: Case Report and Literature Review.
- Published in:
- Clinical Pediatrics, 2007, v. 46, n. 5, p. 451, doi. 10.1177/0009922806298638
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- Publication type:
- Article
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
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- Publication type:
- Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
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- Publication type:
- Article
Ocular manifestations in a family with probably X-linked cataracts.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 243, doi. 10.1111/j.1399-0004.1981.tb01028.x
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- Publication type:
- Article
Severe Ataxia as a Complication of Human Parvovirus B19 Acute Encephalitis in a Child.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 9, p. 1078, doi. 10.1177/0883073808315420
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- Publication type:
- Article
Rett Syndrome Phenotype Following Infantile Acute Encephalopathy.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 9, p. 700, doi. 10.1177/088307380201700910
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- Publication type:
- Article