Sarkar, Saurav;

Sable, Mukund Namdev:


Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations

Al-Taweel, Ahmed;

Abuelhamd, Walaa A.;

Shahin, Walaa;

Nazeer, Marian;

Aly, Hany:


Erythrocyte Complement Receptor 1 Gene Polymorphisms and Neonatal Respiratory Distress Syndrome

Khetkham, Thanitchet;

Onsod, Preyaporn;

Chareonsirisuthigul, Takol:


Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing

Kaur, Anit;

Nada, Ritambhra;

Chakraborty, Soumalya;

Handa, Sanjeev;

Sharawat, Indar Kumar;

Tiewsoh, Karalanglin:


Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the

ALOX12B

gene: A Novel Association with Review of Literature

Gupta, Priya;

Bharathi, Narmadham K.;

Bhat, Maya;

Shivappa, Sanjay K.;

Benakappa, Naveen:


Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India

Al-Hosni, Aliya;

Maimani, Ashwaq Al:


A First-Case Report of Pycnodysostosis in an Omani Boy

Moseley, Kathryn;

Mahajan, Neha;

Warren, Mikako;

Vachon, Linda:


Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

Staal, Heleen M.;

Johnson, Colin A.;

Calder, Alistair;

Ghali, Neeti;

Chudley, Albert E.;

Stumpel, Constance T.R.M.:


Orthopaedic Aspects of SAMS Syndrome

Hamza, Nishath;

Al-Hosni, Aliya;

Al Maimani, Ashwaq:


Spondylo-ocular Syndrome Due to a Novel Variant in

XYLT2

in an Omani Patient

Bijarnia-Mahay, Sunita;

Saxena, K. K.;

Suman, Praveen;

Kukreja, Shyam:


Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

Torres, Barbara;

De Vita, Gloria;

Goldoni, Marina;

De Giorgi, Agnese;

Bernardini, Laura;

Leuzzi, Vincenzo:


Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

Kovilapu, Uday B.;

Devgan, Amit;

Sondhi, Vishal:


Two Novel Compound Heterozygous

ADGRG1/GPR56

Mutations Associated with Diffuse Cerebral Polymicrogyria

Qureshi, Yousaf;

Kornak, Uwe:


Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children