Fernández-Hernández, Liliana;

Sánchez-Verdiguel, Iraís;

González-Núñez, Aidy;

Martínez-Cruz, Víctor;

Sánchez, Carmen;

Moreno-Rojas, Rosario;

Alcántara-Ortigoza, Miguel Angel:


Gene Variants in

NKX2-1

Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population

Agarwal, Sarita;

Muthuswamy, Srinivasan:


Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India

Felice, Michael D.;

Bannick, Allison;

Colombo, Roberto;

Conway, Robert L.:


Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

Marakhonov, Andrey V.;

Shchagina, Olga A.;

Lozier, Ekaterina R.;

Dadali, Elena L.;

Akimova, Irina A.;

Petrova, Nika V.;

Konovalov, Fedor A.:


Ataxia with Oculomotor Apraxia Type 4 with

PNKP

Common “Portuguese” and Novel Mutations in Two Belarusian Families

Rao, Vinod B.;

Palusci, Vincent J.;

Kronn, David;

Manaster, Michal;

Altman, Robin:


Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series

Butler, Merlin G.:


Classic Ehlers–Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father

Esfahani, Behnaz Salek;

Valilou, Saeed Farajzadeh;

Moradi, Mohsen;

Mousavi, Mir Hadi;

Rezazadeh, Maryam:


First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the

CLMP

Gene

Kadali, Srilatha;

Radhika, Ananthaneni;

Singh, Vineeta;

Kumar, M. Aravind;

Reddy, Gummadi Maheshwar;

Naushad, Shaik Mohammad:


Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Barbouth, Deborah;

Swaminathan, Sethuraman:


Early-Onset Marfan Syndrome: A Case Series

Pandey, Swati;

Chaudhary, Madhumita Roy;

Bagga, Arvind;

Kabra, Madhulika;

Uwe, Kornak;

Gupta, Neerja:


Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency

Topak, Duran;

Yılmaz, Orkun;

Çakmaklı, Seda:


A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative

WNT7A

Gene Mutation

Bassanese, Francesco;

Buschini, Chiara;

Foiadelli, Thomas;

Trabatti, Chiara;

Efthymiou, Stephanie;

Salpietro, Vincenzo;

Houlden, Henry;

Simoncelli, Annamaria;

Marseglia, Gian Luigi:


Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel

SLC19A3

Mutation and Review of the Literature