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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
Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation
By: Gurbuz, Ali Sami; Salvarci, Ahmet; Mittal, B.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T
By: Drendel, Holli M.; Ban, Yoshiyuki; Bai, Shaochun…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
By: Zegre Amorim, Marta; Houghton, J.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-3, 3 p.
Journal Articles
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
By: Sheridan, Molly B.; Wohler, Elizabeth; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-6, 6 p.
Journal Articles
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis
By: Gencik, Martin; Mittal, B.; Finsterer, Josef. Case Reports in Genetics. No. 2015 (2015), pp.1-3, 3 p.
Journal Articles
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
By: Taylor, Juliet; Love, Donald R.; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
By: Jerath, Nivedita U.; Royo, José Luis; Shy, Michael E.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
Different Cardiac Anomalies in Mother and Son with 4q-Syndrome
By: Marcì, Marcello; Guarina, Angela; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-3, 3 p.
Journal Articles
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
By: Tanteles, George A.; Sismani, Carolina; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
By: Hayes, Ian; George, Alice M.; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-7, 7 p.
Journal Articles
Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
By: Hochstenbach, R.; Page-Christiaens, G. C. M. L.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-7, 7 p.
Journal Articles
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
By: Maortua, Hiart; Tejada, María-Isabel; Jetten, Anton M.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-7, 7 p.
Journal Articles
PWSAS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication
By: Dawson, Angelika J.; Cox, Janice; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-3, 3 p.
Journal Articles
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
By: Peddareddygari, Leema Reddy; Fenger, Mogens; Grewal, Raji P.. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY47,XYY Syndrome
By: Kucukdurmaz, Faruk; Kankilic, Nazim; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect
By: Mutlu-Albayrak, Hatice; Çaksen, Hüseyin; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
By: Darcy, Diana C.; Paracchini, S.; Wallerstein, Robert J.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
By: Fares, Farah; Farra, Chantal; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis
By: Molinario, Rossana; Cotter, Philip D.; Capoluongo, E.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism
By: Goitia, Veronica; Oquendo, Marcial; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-6, 6 p.
Journal Articles
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
By: Jerath, Nivedita U.; Crockett, Cameron D.; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
By: Kawahara, Tetsuya; Watanabe, Hiromi; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”
By: Cho, Sun-Mi; Lee, Sang-Gu; Lee, Kyung-A…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-1, 1 p.
Journal Articles
Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
By: Wallerstein, Donna; Morrison, Patrick; Wallerstein, Robert J.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-3, 3 p.
Journal Articles
Novel Mutation in a Patient with Cholesterol Ester Storage Disease
By: Lin, Patrick; Conard, Katrina; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.
Journal Articles
A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus
By: Sismani, Carolina; Alexandrou, Angelos; Evangelidou, Paola…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-6, 6 p.
Journal Articles
Exceptional Complex Chromosomal Rearrangements in Three Generations
By: Pertile, Mark D.; Francis, David; Rajcan-Separovic, E.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-5, 5 p.
Journal Articles
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
By: Jedraszak, Guillaume; Copin, Henri; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2015 (2015), pp.1-4, 4 p.