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Biology
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Case Reports in Genetics
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Hindawi Publishing Corporation Cairo, Egypt :
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Journal Articles
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
By: Whittington, Julie R.; Poole, Aaron T.; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-3, 3 p.
Journal Articles
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
By: Bulut, Ozgul; Ince, Zeynep; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
By: Didi, Mohammad; Ban, Yoshiyuki; Senniappan, Senthil…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-5, 5 p.
Journal Articles
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
By: Zech, Michael; Poewe, Werner; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-6, 6 p.
Journal Articles
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate Metabolizer
By: Garcia, Sofia; Mittal, Balraj; Atwal, Paldeep S.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Methylmalonic Acidemia with Novel MUT Gene Mutations
By: Panigrahi, Inusha; Bhunwal, Savita; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-2, 2 p.
Journal Articles
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation
By: Sánchez, Ana Isabel; Cotter, Philip D.; Rojas, Jorge Armando. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?
By: Mendieta Zeron, Hugo; Jiménez-Rosales, Angélica; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-8, 8 p.
Journal Articles
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature
By: Baek, William S.; Aypar, Umut; Mittal, Balraj. Case Reports in Genetics. No. 2017 (2017), pp.1-5, 5 p.
Journal Articles
What Drives Embryo Development? Chromosomal Normality or Mitochondria?
By: Bayram, A.; Elkhatib, I.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly
By: Carter, Jennifer; Melegh, Bela; Waters, Jonathan J.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
By: Kinabo, Grace; Hamel, Ben C. J.; Ichikawa, Shoji…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-5, 5 p.
Journal Articles
Neoplasia in Cri du Chat Syndrome from Italian and German Databases
By: Guala, Andrea; Spunton, Marianna; Paracchini, S.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-3, 3 p.
Journal Articles
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
By: Das, Soma; Klee, Eric W.; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania
By: Shao, Elichilia; Mwasamwaja, Amos; Hamel, Ben C. J.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly
By: Naud, Marie-Emmanuelle; Tosca, Lucie; Rajcan-Separovic, E.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-5, 5 p.
Journal Articles
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
By: Nguyen, Thi Kim Lien; Pham, Van Dem; Kershaw, David B.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-7, 7 p.
Journal Articles
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association
By: Chaudhary, Nagendra; Shrestha, Sandeep; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype
By: Rincon, Alejandra; Cotter, Philip D.; Suárez-Obando, Fernando…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-3, 3 p.
Journal Articles
A Newborn with Panhypopituitarism and Seizures
By: Kale, Trupti; Patil, Rachit; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-3, 3 p.
Journal Articles
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature
By: Sánchez-Montenegro, Carlos; Vilanova-Sánchez, Alejandra; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-13, 13 p.
Journal Articles
Further Evidence That the CFTR Variant c.2620-6T>C Is Benign
By: Wallerstein, Violet I.; Morrison, Patrick; Wallerstein, Robert. Case Reports in Genetics. No. 2017 (2017), pp.1-2, 2 p.
Journal Articles
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
By: Zimmermann, Michael T.; Cotter, Philip D.; Atwal, Paldeep S.…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.
Journal Articles
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
By: Najafi, Kimia; Kariminejad, Roxana; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2017 (2017), pp.1-4, 4 p.