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تقييد النتائج
التخصصات الرئيسية
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Case Reports in Genetics
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مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
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