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POLISH ACTIVITY WITHIN ORPHANET EUROPE - STATE OF ART OF DATABASE AND SERVICES.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 536
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- Article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
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- 2017
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- journal article
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
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- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1245, doi. 10.3390/jcm9051245
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- Article
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1263
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- Article
11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.
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- Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611
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- Article
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 72, doi. 10.1002/ajmg.a.37964
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- Article
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641
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- Article
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2541, doi. 10.1002/ajmg.a.36686
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- Article
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-Additional case and data's review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 172, doi. 10.1002/ajmg.a.35654
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- Article
A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1486, doi. 10.1002/ajmg.a.35320
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- Article
Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 922, doi. 10.1002/ajmg.a.34440
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- Article
Schimke immuno-osseous dysplasia: two cases.
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- 2003
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- Publication type:
- journal article
High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3133, doi. 10.1210/jc.2009-2628
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- Article
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
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- Acta Neuropathologica, 2010, v. 119, n. 3, p. 325, doi. 10.1007/s00401-009-0608-y
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- Article
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies.
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- International Journal of Cancer, 2006, v. 118, n. 5, p. 1269, doi. 10.1002/ijc.21439
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- Article
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 185, doi. 10.1007/s10545-010-9244-x
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- Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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- Article
Differences between predicted and established diagnoses of Smith‐Lemli‐Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 241, doi. 10.1007/s10545-010-9132-4
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- Article
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
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- Pediatric Nephrology, 2015, v. 30, n. 6, p. 931, doi. 10.1007/s00467-014-3013-2
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- Article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
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- 2016
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- Publication type:
- journal article
Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation.
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- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-015-0209-4
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- Article
The frequency of NBN molecular variants in pediatric astrocytic tumors.
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- Journal of Neuro-Oncology, 2010, v. 96, n. 2, p. 161, doi. 10.1007/s11060-009-9958-5
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- Article
Twelve novel JAG1 gene mutations in polish Alagille syndrome patients.
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- Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9313
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- Article
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
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- Genes, 2022, v. 13, n. 5, p. 724, doi. 10.3390/genes13050724
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- Article