Innes, Josie;

Jones, Elizabeth A.;

Kingston, Helen;

Reardon, William;

Kerr, Bronwyn;

Clayton-Smith, Jill;

Douzgou, Sofia:


Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Muntaj, Shaik;

Devaraju, K. S.;

Kamate, M.;

Vedamurthy, A. B.:


Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

Bakur, Khadijah H.;

Edrees, Alaa Y.;

Al-Aama, Jumana Y.:


Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia

Alaimo, Joseph T.;

Fountain, Michael D.;

Burns, Brooke;

Balog, Amanda Hebert;

Chen, Li;

Elsea, Sarah H.:



RAI1

Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome

Lantigua, Araceli;

Galarza, Juan;

Hamid Al-Rikabi, Ahmed B.;

Ziegler, Monika;

Liehr, Thomas:


Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy

Knapp, Michael;

Kause, Franziska;

Reutter, Heiko;

Ludwig, Michael:


Role of the LF-SINE–Derived Distal

ISL1

Enhancer in Patients with Classic Bladder Exstrophy

Özcan, Aysegül:


First Report of Two Rare Entities in a Family: 49,XXXXY and 45,X

Shukla, Anju;

Nishimura, Gen;

Girisha, Katta M.:


Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in

IHH

Gene

Melis, D.;

D’Amico, A.;

Cappuccio, G.;

Auletta, G.;

Vassallo, P.;

Genesio, R.;

Nitsch, L.;

Buffolano, W.:


Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Lumaka, Aimé;

Kasole, Toni Lubala;

Ilunga, Erick Kasamba;

Asani, Bienvenu Yogolelo;

Tshilobo, Prosper Lukusa;

Muenze, Prosper Kalenga;

Reychler, Hervé;

Katombe, François Tshilombo;

Devriendt, Koenraad:


Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

Hebbar, Malavika;

Roy, Arun Grace;

Kochumon, Sheena P.;

Bielas, Stephanie;

Shukla, Anju;

Girisha, Katta M.:


Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in

PGAP3

Nayak, Shalini S.;

Pai, Muralidhar V.;

Shukla, Anju;

Girisha, Katta M.:


Occurrence of Synpolydactyly and Omphalocele in a Fetus with a

HOXD13

Mutation

Somashekar, Puneeth H.;

Shukla, Anju;

Siddaiah, Satish;

Bhat, Venkatraman;

Girisha, Katta M.;

Rao, Pooja N.:


Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with

MED12

Mutation