Clinical Genetics

ISSN: 1824-7288 (Online)

In this topical collection (97 articles)

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  1. Case report

    Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

    Marcello Scala, Midas Anijs, Roberta Battini… Article:208
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  2. Research

    Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

    Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan… Article:207
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  3. Case Report

    Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

    Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace… Article:206
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  4. Commentary

    Genetics and”democracy”

    Federico Marchetti, Giovanni Corsello Article:202
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  5. Case report

    Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

    Gregorio Serra, Vincenzo Antona, Mario Giuffré… Article:196
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  6. Research

    Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

    Nahid Tavana, Tzer Hwu Ting, Kaitao Lai… Article:193
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  7. Case report

    15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

    Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl… Article:188
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  8. Case report

    Infantile Pompe disease with intrauterine onset: a case report and literature review

    Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang… Article:187
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  9. Case report

    Hao-Fountain syndrome and genital disorders: report of a new possible association

    Nicola Zampieri, Rebecca Pulvirenti, Eleonora Pedrazzoli… Article:182
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  10. Case report

    A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

    E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs… Article:178
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  11. Case report

    From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

    Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera… Article:177
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  12. Case report

    Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

    Gregorio Serra, Clara Giambrone, Vincenzo Antona… Article:170
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  13. Research

    Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience

    Serap Bilge, Gülen Gül Mert, Özlem Hergüner… Article:169
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  14. Research

    High-throughput screening reveals novel mutations in spinal muscular atrophy patients

    Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng… Article:166
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  15. Case report

    Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report

    Itaru Hayakawa, Yuichi Abe, Hiroshi Ono, Masaya Kubota Article:165
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  16. Case report

    Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

    Shao-Wen Wu, Lin Li, Fan Feng, Li Wang, Yuan-Yuan Kong… Article:160
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  17. Case report

    PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

    Piero Pavone, Giovanni. Corsello, Sung Yoon Cho… Article:159
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  18. Case report

    Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

    Cristina Tumminelli, Francesca Burlo, Serena Pastore… Article:156
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  19. Case report

    CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

    Alessandra Consales, Beatrice Letizia Crippa… Article:154
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  20. Case report

    Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

    Yi Gan, Fei Yu, Haining Fang Article:154
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