Al-Murshedi, Fathiya;

Al-Futaisi, Amna;

Al-Jabry, Tariq;

Zadjali, Fahad;

Al-Yahyaee, Said;

Al-Maawali, Almundher:


Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (

ASNS

) Gene

Chaudhry, Chakshu;

Kaur, Parminder;

Daniel, Roshan;

Srivastava, Priyanka:


Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy

Abbassi, Meriame;

Sayel, Hanane;

Ahakoud, Mohamed;

El Makhzen, Badr Eddine;

Lee, Norman;

Russo, Silvia;

Chaouki, Sana;

Bouguenouch, Laila:


Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype–Genotype Correlation in 97 Patients with Motor Developmental Delay

Srivastava, Somya;

Kumar, Somesh;

Varughese, Bijo;

Pandey, Manmohan;

Venkatramaiah, Manjunath;

Chaudhary, Parul;

Moirangthem, Amita;

Mandal, Kausik;

Kapoor, Seema:


Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients

Hernandez-Garcia, Andres;

Lyu, Jennifer M.;

Campbell, Ian M.;

Shaw, Chad A.;

Vogt, Julie;

High, Frances A.;

Donahoe, Patricia K.;

Chung, Wendy K.;

Scott, Daryl A.:



FOXP1

Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

Das, Gourab;

Malhotra, Rakhi;

Ramchandran, Sateesh;

Phani, Nagaraja M.;

Appaswamy, Giridharan;

Sridharan, Upasana;

Dwivedi, Aradhana:


Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 (

TRPM6

) Gene

Cordinhã, Carolina;

do Carmo, Carmen;

Alves, Cristina;

Heath, Karen E.;

Sousa, Sérgio B.;

Gomes, Clara:


Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic

CYP27B1

Variant Frequent in the African Population

Kara, Bülent;

Eser Şimsek, Isil;

Güngör, Mesut;

Zengin, Emine;

Sarper, Nazan:


Autoimmune Hemolytic Anemia Due to Spondyloenchondrodysplasia with Spastic Paraparesis and Intracranial Calcification due to Mutation in

ACP5

Hartmann, Jéssica K.;

Zottis, Laira F. F.;

Gama, Thiago K. K.;

Rosa, Ernani B. da;

Zen, Paulo R. G.;

Rosa, Rafael F. M.:


Laryngotracheomalacia in a Patient with Mosaic Trisomy 8

Rawool, Anup;

Mandal, Kausik:


Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant

Bagis, Haydar;

Bolu, Semih:


Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature