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Case Reports in Genetics
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Journal Articles
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
By: Mbuyi-Musanzayi, Sébastien; Lubala Kasole, Toni; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
By: Mandrile, Giorgia; Di Gregorio, Eleonora; Rajcan-Separovic, E.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
By: Kim, Juwon; Lee, Kyung-A; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)
By: Khawandanah, Mohamad; Li, Shibo; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
By: Sánchez, Javier; Peciña, Ana; Borrego, Salud…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Alsin Related Disorders: Literature Review and Case Study with Novel Mutations
By: Flor-de-Lima, Filipa; Sampaio, Mafalda; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa
By: Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
By: Graham, Daryl; Gooch, Megan; Reilly, Elizabeth…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-7, 7 p.
Journal Articles
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
By: Thakur, Pankaj; Speer, Paul; Rajkovic, Aleksandar…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene
By: Tosun Yildirim, Hulya; Serdaroglu, Gul; Tukun, Ajlan…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Complex Variant of Philadelphia Translocation Involving Chromosomes 9, 12, and 22 in a Case with Chronic Myeloid Leukaemia
By: Malvestiti, Francesca; Grimi, B.; Maggi, Federico…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
By: Gandomi, Stephanie K.; Lu, Ira; Gau, Chia-Ling…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism
By: Chareonsirisuthigul, Takol; Rerkamnuaychoke, Budsaba; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability
By: Pfundt, Rolph; Nillesen, Willy; Perez de Nanclares, G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker
By: Mazzaschi, Roberto L. P.; Taylor, Juliet; Vogt, G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
Neurofibromatosis Type 1 : A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
By: Domingues, Sara; Rocha, Dalila; Morrison, Patrick…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm
By: Conard, Katrina; Hyland, James; Pizarro, Christian…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML
By: Cetin, Zafer; Berker Karauzum, Sibel; Bunyan, D. J.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
Microduplication of 3p26.3 Implicated in Cognitive Development
By: Maikoo, Raj; Mazzaschi, Roberto L. P.; Parnell, Laurence D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Congenital Arthrogryposis : An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
By: Williams, C. A.; Paracchini, S.; Perry, R.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype
By: Tsoukalas, Nikolaos; Konstantopoulou, Irene; Kibriya, M. G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
An Interstitial Deletion at 10q26.2q26.3
By: Vorsanova, Svetlana G.; Kurinnaia, Oxana S.; Lehman, D.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4–11
By: Tanteles, George A.; Phylactou, Leonidas A.; Vogt, G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
A Case of False Negative NIPT for Down Syndrome-Lessons Learned
By: Smith, Meagan; Lewis, Kimberly M.; Holmes, Alexandrea…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
By: Taylor, Juliet; Bunyan, D. J.; Ennis, S.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21 : A Case Report and Review of the Literature
By: Downie, Lilian; Pertile, Mark D.; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-6, 6 p.
Journal Articles
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
By: Jones, Marilyn C.; Dietz, Harry C.; Das, Soma…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.
Journal Articles
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
By: Sánchez, Javier; Bernal, Ricardo; López Ginés, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-3, 3 p.
Journal Articles
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
By: Hyon, Capucine; Balet, Richard; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-2, 2 p.
Journal Articles
Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes
By: Richard, Craig; Parnell, Laurence D.; Saccucci, Patrizia…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-4, 4 p.
Journal Articles
Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder
By: Laplana, Marina; Aluja, Anton; Kibriya, M. G.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-9, 9 p.
Journal Articles
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
By: Kedev, S.; Bunyan, D. J.; Julier, C.…[et al.]. Case Reports in Genetics. No. 2014 (2014), pp.1-5, 5 p.