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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
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
By: Kale, Trupti; Paracchini, S.; Philip, Melissa. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
By: Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-7, 7 p.
Journal Articles
Adult Prader-Willi Syndrome: An Update on Management
By: Ho-Ming, Luk; Cotter, Philip D.. Case Reports in Genetics. No. 2016 (2016), pp.1-3, 3 p.
Journal Articles
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
By: Vasiliadis, Konstantinos; Zafeiriou, D. I.; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
By: Swaika, Abhisek; Boczek, Nicole J.; Mittal, B.…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-4, 4 p.
Journal Articles
Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata
By: Sismani, Carolina; Tanteles, George A.; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-6, 6 p.
Journal Articles
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function
By: Li, Dong; Bhoj, Elizabeth; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13
By: Cao, Yang; Borowski, Kristi S.; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
By: Carter, Jennifer; Zombor, Melinda; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-3, 3 p.
Journal Articles
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
By: Lo-A-Njoe, Shirley; Hochstenbach, R.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
By: Ho-Ming, Luk; Yapijakis, C.. Case Reports in Genetics. No. 2016 (2016), pp.1-6, 6 p.
Journal Articles
Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5
By: Biha, Noura; Ghaber, S. M.; Ichikawa, Shoji…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.
Journal Articles
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa
By: Zimmermann, Anca; Rossmann, Heidi; Bucerzan, Simona…[et al.]. Case Reports in Genetics. No. 2016 (2016), pp.1-5, 5 p.