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Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma: Protocol of a prospective multicenter phase 2 trial.
- Published in:
- HNO, 2024, v. 72, n. 6, p. 423, doi. 10.1007/s00106-023-01404-9
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- Publication type:
- Article
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
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- Journal of Hematology & Oncology, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13045-024-01547-4
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- Publication type:
- Article
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
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- Genes, 2024, v. 15, n. 3, p. 370, doi. 10.3390/genes15030370
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- Publication type:
- Article
Unusual phenotypes in patients with a pathogenic germline variant in DICER1.
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- Familial Cancer, 2023, v. 22, n. 4, p. 475, doi. 10.1007/s10689-021-00271-z
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- Publication type:
- Article
Prenatal testing for Imprinting Disorders: A clinical perspective.
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- Prenatal Diagnosis, 2023, v. 43, n. 8, p. 983, doi. 10.1002/pd.6400
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- Publication type:
- Article
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00846-2
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- Article
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
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- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01453-5
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- Publication type:
- Article
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
- Published in:
- 2023
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- Publication type:
- Letter
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
- Published in:
- Deutsches Ärzteblatt International, 2022, v. 119, n. 51/52, p. 895
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- Publication type:
- Article
Molecular pathophysiology of human MICU1 deficiency.
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- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 840, doi. 10.1111/nan.12694
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- Publication type:
- Article
Aggressive infantile myofibromatosis with intestinal involvement.
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- Molecular & Cellular Pediatrics, 2021, v. 8, n. 1, p. 1, doi. 10.1186/s40348-021-00117-9
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- Publication type:
- Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Patient with an autosomal‐recessive MBTPS1‐linked phenotype and clinical features of Silver–Russell syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2727, doi. 10.1002/ajmg.a.61833
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- Publication type:
- Article
Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
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- Clinical Genetics, 2020, v. 98, n. 4, p. 408, doi. 10.1111/cge.13819
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- Publication type:
- Article
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
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- Journal of Molecular Medicine, 2020, v. 98, n. 10, p. 1447, doi. 10.1007/s00109-020-01966-z
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- Publication type:
- Article
Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.
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- Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031
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- Publication type:
- Article
Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues.
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- Medizinische Genetik, 2020, p. 221, doi. 10.1515/medgen-2020-2031
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- Publication type:
- Article
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
- Published in:
- 2020
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- Publication type:
- journal article
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
- Published in:
- 2020
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- Publication type:
- journal article
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.
- Published in:
- 2020
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- Publication type:
- journal article
Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01219
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- Publication type:
- Article
Plasma-derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report.
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- 2019
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- Publication type:
- case study
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
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- 2019
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- Publication type:
- journal article
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0629-x
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- Publication type:
- Article
Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1225, doi. 10.1002/mgg3.426
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- Publication type:
- Article
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1255, doi. 10.1002/mgg3.490
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- Publication type:
- Article
Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database.
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- Human Mutation, 2018, v. 39, n. 3, p. 345, doi. 10.1002/humu.23382
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- Publication type:
- Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
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- Publication type:
- Article
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.
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- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0215-4
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- Publication type:
- Article
Chromosom 14-assoziierte Imprintingsyndrome - Temple- und Kagami-Ogata-Syndrome.
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- Medizinische Genetik, 2015, v. 27, n. 2, p. 247, doi. 10.1007/s11825-015-0050-6
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- Publication type:
- Article
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1121, doi. 10.1002/ajmg.a.36972
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- Publication type:
- Article
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 180, doi. 10.1038/ejhg.2014.72
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- Publication type:
- Article
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722
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- Publication type:
- Article
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
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- Publication type:
- Article
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E.
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- Clinical Neuropathology, 2014, v. 33, n. 5, p. 335, doi. 10.5414/NP300742
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- Publication type:
- Article
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 736, doi. 10.1002/ajmg.a.36319
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- Publication type:
- Article
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2858, doi. 10.1093/hmg/ddq189
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- Publication type:
- Article
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 709, doi. 10.1002/humu.20712
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- Publication type:
- Article