Found: 27
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The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 891, doi. 10.1002/ppul.26842
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- Publication type:
- Article
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 141, doi. 10.1159/000485507
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- Publication type:
- Article
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
- Published in:
- Frontiers in Genetics, 2017, v. 8, p. 1, doi. 10.3389/fgene.2017.00047
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- Publication type:
- Article
Homeobox HOXA10 Gene Analysis in Cryptorchidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 1, p. 41, doi. 10.1515/jpem.2004.17.1.41
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- Publication type:
- Article
3p26.3 terminal deletions: a challenge for prenatal genetic counseling.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4.
- Published in:
- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1240663
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- Publication type:
- Article
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.496
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- Publication type:
- Article
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY -Negative Boy with a 46,XX Disorder of Sex Development.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2067, doi. 10.3390/genes14112067
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- Publication type:
- Article
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2249, doi. 10.3390/genes13122249
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- Publication type:
- Article
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 859, doi. 10.3390/genes13050859
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- Publication type:
- Article
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 276, doi. 10.3390/genes13020276
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- Publication type:
- Article
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01160-5
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- Publication type:
- Article
B Cell Chronic Lymphocytic Leukemia.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 987, n. 1, p. 302, doi. 10.1111/j.1749-6632.2003.tb06068.x
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- Publication type:
- Article
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7579, doi. 10.3390/jcm12247579
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- Publication type:
- Article
Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 2025, doi. 10.3390/jcm11072025
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- Publication type:
- Article
An unusual pattern of B-cell immunological reconstitution after allogeneic stem cell transplantation: A possible correlation with CMV reactivation?
- Published in:
- Pediatric Transplantation, 2009, v. 13, n. 8, p. 1050, doi. 10.1111/j.1399-3046.2008.01107.x
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- Publication type:
- Article
Rapid detection of γT cell receptor gene rearrangements in acute lymphoblastic leukemia by electrophoresis and silver staining: Implications for detection of minimal residual disease.
- Published in:
- Electrophoresis, 1998, v. 19, n. 8/9, p. 1385, doi. 10.1002/elps.1150190831
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- Publication type:
- Article
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 3, p. 147, doi. 10.1159/000497092
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- Publication type:
- Article
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 3, p. 131, doi. 10.1159/000456062
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- Publication type:
- Article
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 19, doi. 10.1159/000444430
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- Publication type:
- Article
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 556, doi. 10.1002/ajmg.a.38039
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- Publication type:
- Article
A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 280, doi. 10.1002/ajmg.a.38002
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- Publication type:
- Article
A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2389, doi. 10.1002/ajmg.a.36039
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- Publication type:
- Article
Acro-cardio-facial syndrome: A microdeletion syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1994, doi. 10.1002/ajmg.a.35444
- By:
- Publication type:
- Article
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
- Published in:
- 2015
- By:
- Publication type:
- Case Study