Chondrou, Vasiliki;

Sgourou, Argyro;

Douros, Konstantinos;

Tsabouri, Sophia:


HLA Polymorphisms and Food Allergy Predisposition

Prasad, Rajniti;

Mishra, Om Prakash:


Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

Tadiotto, Elisa;

Morandi, Grazia;

Fedrizzi, Michela;

Gaudino, Rossella;

Cavarzere, Paolo;

Guzzo, Alessandra;

Antoniazzi, Franco:


Hypocalcemia following Neridronate Administration in Pediatric Patients with Osteogenesis Imperfecta: A Prospective Observational Study

Baran, Masallah;

Ozturk Hismi, Burcu;

Ozyilmaz, Berk;

Vardi, Kader;

Ozer Kaya, Ozge;

Aksoy, Betul;

Kasap Demir, Belde:


Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel

NPHP3

Genotype

Nieto-Moreno, Margarita;

Alberola, Roberto Lopez:


Spastic Diplegia in a Haitian Girl with Angelman Syndrome

Thomas, Manal M.;

Tosson, Angie M.S.:


Mutation in the

SLC29A3

Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

Ozkol, Mine;

Nese, Nalan;

Taneli, Can;

Cankorur, Osman Orkun;

Ozunan, Ipek:


Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome)

Singh, Shekhar;

Jain, Angita;

Atwal, Herjot;

Atwal, Paldeep S.:


Novel

COL11A2

Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Svirsky, Ran;

Orr-Urtreger, Avi;

Sagie, Liora;

Fattal-Valevski, Aviva;

Fellig, Yakov;

Ben-Shachar, Shay:


Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1–Related Disease

Langeh, Nitika;

Sridharan, Aparajit;

Kabra, Madhulika:


Identification of a Novel 19-bp Deletion Mutation in

LTBP4

Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

Baggi, Elena;

Senatore, Laura;

Bedeschi, Maria Francesca;

Dilena, Robertino;

Iascone, Maria;

Gangi, Silvana;

Marchisio, Paola;

Patria, Maria Francesca:


Familial Sleep Disorders in Unknown Genetic Syndrome

Ezeanya, Uzoamaka C.;

Beaudoin, Sarah J.;

Glass, Kristen M.;

Oji-Mmuo, Christiana N.:


Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome

Jain, Angita;

Atwal, Herjot;

Sevlam, Pavalan;

Atwal, Paldeep S.:


Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

Chawla, Bhavna;

Dada, Rima:


8-Hydroxy-2′-Deoxyguanosine in Sperm DNA and Increased Risk of Nonfamilial Sporadic Heritable Retinoblastoma in the Child