Recent Publications on Abnormalities Multiple: |  |
| Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature.
| 1st October, 2008
| Department of Pediatrics, Division of Neonatology, Eskisehir Osmangazi
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| [Polysplenia with anomalous pulmonary venous drainage to right atrium caused by atrial septal displacement; report of a case]
| 27th September, 2008
| Department of Cardiovascular Surgery, Hokkaido Medical Center for Child
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| Pseudoprune belly syndrome; its' associations and management challenge in a developing country: a case report.
| 24th September, 2008
| Paediatric Surgery Unit, Department of Surgery, Jos University Teaching
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| The unexpected when expecting.
| 20th September, 2008
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[Not alone with a rare disease. The importance of self-help given by the example of anorectal malformations]
Using the German self-help organization for people with anorectal...
Direct Link | 19th September, 2008
| Universitat
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Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p.
We describe the clinical case of a nine-year-old boy with psychomotor...
Direct Link | 18th September, 2008
| Department of Biology and Medical Genetics, School of Medicine, University
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Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
We report on a 25-year-old male with mental retardation and global...
Direct Link | 16th September, 2008
| Universidade Federal do Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil.
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Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
Recent advances in molecular cytogenetics enable identification of small...
Direct Link | 13th September, 2008
| Department of Medical Genetics, Institute of Mother and Child, Warsaw,
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10qter deletion: a new case.
Recent advances in molecular cytogenetics enable identification of small...
Direct Link | 13th September, 2008
| Dipartimento Materno Infantile, Universita di Palermo, Palermo, Italy.
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Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Opitz G/BBB syndrome is characterized by midline abnormalities such as...
Direct Link | 13th September, 2008
| Department of Pediatrics, Division of Genetics, UCSF School of Medicine,
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Investigation of 4q-deletion in two unrelated patients using array CGH.
A rare congenital anomaly of maxillomandibular fusion with pectus...
Direct Link | 13th September, 2008
| Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre
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| Congenital bilateral fusion of the maxillomandibular alveolar processes with craniosynostosis: report of a rare case.
| 10th September, 2008
| Department of Dental Surgery, Federal Medical Center, Nguru, Nigeria.
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| [Dysgnathia complex, a rare deviation]
| 9th September, 2008
| Uit de afdeling Mond-, Kaak- en Aangezichtschirurgie/Orale Pathologie van
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Joubert syndrome (JS) and related disorders are a group of...
Direct Link | 21st August, 2008
| Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes
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| [Non-recurrent inferior laryngeal nerves and sympathetic-inferior laryngeal anastomotic branches: 6 years' personal experience]
| 12th August, 2008
| SC Chirurgia Endocrina del Collo e dei Tessuti Molli (Terni), Universita
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