Clinical Genetics

ISSN: 1824-7288 (Online)

In this topical collection (97 articles)

Page of 5

  1. Case report

    Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

    Francesca Mercadante, Ettore Piro, Martina Busè… Article:152
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  2. Case report

    Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

    Bernadette Donnarumma, Maria Pia Riccio, Gaetano Terrone… Article:148
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  3. Letter to the Editor

    A child with a novel ACAN missense variant mimicking a septic arthritis

    Angelo Florio, Riccardo Papa, Roberta Caorsi… Article:148
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  4. Case report

    Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

    Gregorio Serra, Luigi Memo, Vincenzo Antona… Article:147
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  5. Case report

    Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

    Gregorio Serra, Luigi Memo, Paola Cavicchioli… Article:145
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  6. Review

    Dornase alfa in Cystic Fibrosis: indications, comparative studies and effects on lung clearance index

    Vito Terlizzi, Chiara Castellani, Giovanni Taccetti… Article:141
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  7. Case report

    Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

    Gregorio Serra, Vincenzo Antona… Article:138
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  8. Case report

    NF1 microdeletion syndrome: case report of two new patients

    Gregorio Serra, Vincenzo Antona, Giovanni Corsello… Article:138
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  9. Case report

    Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

    Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona… Article:136
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  10. Case report

    Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

    Gregorio Serra, Vincenzo Antona, Chiara Cannata… Article:133
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  11. Case report

    First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

    Mario Tumminello, Antonella Gangemi, Federico Matina… Article:128
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  12. Case report

    Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature

    Pierandrea Elefante, Beatrice Spedicati, Flavio Faletra… Article:127
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  13. Research

    Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

    Sumbal Sarwar, Shabana, Amna Tahir, Zainab Liaqat… Article:124
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  14. Case report

    Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

    Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou Article:123
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  15. Research

    Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome

    Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang… Article:121
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  16. Case report

    Membranous aplasia cutis congenita in trisomy 18

    Francisco Cammarata-Scalisi, Andrea Diociaiuti… Article:120
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  17. Research

    Peripheral blood microR-146a and microR-29c expression in children with Mycoplasma pneumoniae pneumonia and its clinical value

    Jingcai Wang, Chunyan Guo, Lixin Yang, Peng Sun… Article:119
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  18. Case report

    A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

    Gianluca Tornese, Giuseppa Patti, Maria Chiara Pellegrin… Article:119
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  19. Case report

    Intranasal dexmedetomidine and intravenous ketamine for procedural sedation in a child with alpha-mannosidosis: a magic bullet?

    Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno… Article:119
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  20. Research

    Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations

    Da Hong, Dan Dai, Jing Liu, Congcong Zhang, Tingting Jin… Article:117
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