| Nome |
# |
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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?, file de3e52b1-3a1b-762d-e053-3705fe0a30e0
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32
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Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation., file de3e52b1-ad1e-762d-e053-3705fe0a30e0
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32
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Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects, file de3e52b2-a90f-762d-e053-3705fe0a30e0
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23
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Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype., file de3e52ae-9fd5-762d-e053-3705fe0a30e0
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16
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Prevalence of deafness-associated connexin-26 (GJB2) and connexin-30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily, file de3e52af-29a7-762d-e053-3705fe0a30e0
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15
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Autoimmune liver disease in Noonan Syndrome., file de3e52b0-862f-762d-e053-3705fe0a30e0
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12
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Age and sex prevalence estimate of Joubert syndrome in Italy, file de3e52b2-a913-762d-e053-3705fe0a30e0
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12
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A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity., file de3e52af-9f7b-762d-e053-3705fe0a30e0
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11
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Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion, file de3e52b3-01ac-762d-e053-3705fe0a30e0
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10
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null, file de3e52b4-7af7-762d-e053-3705fe0a30e0
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10
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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients, file de3e52ae-d9cd-762d-e053-3705fe0a30e0
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9
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null, file de3e52ae-eec0-762d-e053-3705fe0a30e0
|
9
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Prevalence of deafness-associated connexin-26 (GJB2) and connexin-30 (GJB6) pathogenic alleles in a large patient cohort from Eastern Sicily, file de3e52b3-9cca-762d-e053-3705fe0a30e0
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8
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null, file de3e52ae-a0b7-762d-e053-3705fe0a30e0
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7
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null, file de3e52b0-3284-762d-e053-3705fe0a30e0
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7
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Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia, file de3e52b0-3286-762d-e053-3705fe0a30e0
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7
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Gene-environment interaction in childhood asthma., file de3e52af-076b-762d-e053-3705fe0a30e0
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6
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What syndrome is this? Kabuki make-up syndrome (Niikawa-Kuroki syndrome), file de3e52ae-ca55-762d-e053-3705fe0a30e0
|
5
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Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation, file de3e52ae-cbc5-762d-e053-3705fe0a30e0
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5
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NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared., file de3e52ae-e06c-762d-e053-3705fe0a30e0
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5
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Idiopathic intracranial hypertension in children: A review of traditional theories and newer
approaches to management, file de3e52ae-e810-762d-e053-3705fe0a30e0
|
5
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Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long-term follow-up., file de3e52ae-ed1d-762d-e053-3705fe0a30e0
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5
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Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13, file de3e52ae-f1a6-762d-e053-3705fe0a30e0
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5
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders, file de3e52b0-2991-762d-e053-3705fe0a30e0
|
5
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null, file de3e52b0-f5d5-762d-e053-3705fe0a30e0
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5
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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations, file de3e52ae-c94b-762d-e053-3705fe0a30e0
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4
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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1, file de3e52ae-cbb6-762d-e053-3705fe0a30e0
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4
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FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family, file de3e52b2-1d33-762d-e053-3705fe0a30e0
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4
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CNVs inform the biological network of Autism spectrum disorder, file de3e52b3-edcd-762d-e053-3705fe0a30e0
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4
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function, file de3e52b5-16e8-762d-e053-3705fe0a30e0
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4
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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies, file de3e52ae-b398-762d-e053-3705fe0a30e0
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3
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Linear scleroderma 'en coup de sabre' associated with facial atrophy in a patient seropositive for Borrelia burgdorferi: a true case of molecular mimicry?, file de3e52ae-b76c-762d-e053-3705fe0a30e0
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3
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null, file de3e52ae-edcb-762d-e053-3705fe0a30e0
|
3
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null, file de3e52ae-f597-762d-e053-3705fe0a30e0
|
3
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders, file de3e52b0-8c26-762d-e053-3705fe0a30e0
|
3
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null, file de3e52b3-0e68-762d-e053-3705fe0a30e0
|
3
|
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Molecular Pathways within Autism Spectrum Disorder Endophenotypes, file de3e52b4-4b79-762d-e053-3705fe0a30e0
|
3
|
|
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene, file de3e52b5-0721-762d-e053-3705fe0a30e0
|
3
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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function, file de3e52b5-0a16-762d-e053-3705fe0a30e0
|
3
|
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Neurofibromatosis: New Clinical Challenges in the Era of COVID-19, file 7579c812-c81a-4d08-9a07-b59b8d158a8f
|
2
|
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Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide, file 9079f7c8-91f7-47b7-88fa-0bdd9a863b51
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2
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Rituximab for the treatment of post-bone marrow transplantation refractory hemolytic anemia in a child with Omenn's syndrome., file de3e52ae-bec1-762d-e053-3705fe0a30e0
|
2
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TLR2 and TLR4 gene polymorphisms and atopic dermatitis in Italian children: a multicenter study, file de3e52ae-ce94-762d-e053-3705fe0a30e0
|
2
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Idiopathic Intracranial Hypertension: a unifying neuroendocrine hypothesis is possible?, file de3e52ae-e80a-762d-e053-3705fe0a30e0
|
2
|
|
Proteus syndrome: Evaluation of the immunological profile, file de3e52b0-2498-762d-e053-3705fe0a30e0
|
2
|
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome, file de3e52b0-9700-762d-e053-3705fe0a30e0
|
2
|
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null, file de3e52b2-fadc-762d-e053-3705fe0a30e0
|
2
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H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol, file 91c6961f-f1a2-4ef4-878f-4997d8e48cc2
|
1
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Autoimmune hepatitis in genetic syndromes: A literature review, file 9b189aa8-ce6c-4b4d-a596-63a03e19aec9
|
1
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null, file de3e52ae-a423-762d-e053-3705fe0a30e0
|
1
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Report of a third family with Oliver syndrome, file de3e52ae-b381-762d-e053-3705fe0a30e0
|
1
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|
Cutis laxa in Kabuki make-up syndrome, file de3e52ae-b979-762d-e053-3705fe0a30e0
|
1
|
|
Idiopathic intracranial hypertension in children: A review of traditional theories and newer
approaches to management, file de3e52ae-e827-762d-e053-3705fe0a30e0
|
1
|
|
Increased protein carbonyl groups in the serum of patients affected by thalassemia major, file de3e52ae-e839-762d-e053-3705fe0a30e0
|
1
|
|
LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response., file de3e52b2-e64a-762d-e053-3705fe0a30e0
|
1
|
|
null, file de3e52b4-d0b9-762d-e053-3705fe0a30e0
|
1
|
|
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS), file de3e52b4-e431-762d-e053-3705fe0a30e0
|
1
|
|
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature, file de3e52b5-1223-762d-e053-3705fe0a30e0
|
1
|
|
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al, file de3e52b5-16e0-762d-e053-3705fe0a30e0
|
1
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| Totale |
341 |