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Volume 2015
Main
Case Reports in Genetics
Volume 2015
Case Reports in Genetics
Volume 2015
1
A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus
Sismani, Carolina
,
Christopoulou, Georgia
,
Alexandrou, Angelos
,
Evangelidou, Paola
,
Donoghue, Jacqueline
,
Konstantinidou, Anastasia E.
,
Velissariou, Voula
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.16 MB
Your tags:
english, 2015
2
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
Tanteles, George A.
,
Nikolaou, Elpiniki
,
Christou, Yiolanda
,
Alexandrou, Angelos
,
Evangelidou, Paola
,
Christophidou-Anastasiadou, Violetta
,
Sismani, Carolina
,
Papacostas, Savvas S.
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.58 MB
Your tags:
english, 2015
3
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Jerath, Nivedita U.
,
Grider, Tiffany
,
Shy, Michael E.
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.24 MB
Your tags:
english, 2015
4
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T
Drendel, Holli M.
,
Pike, Jason E.
,
Schumacher, Katherine
,
Ouyang, Karen
,
Wang, Jing
,
Stuy, Mary
,
Dlouhy, Stephen
,
Bai, Shaochun
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.05 MB
Your tags:
english, 2015
5
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia
Peddareddygari, Leema Reddy
,
Grewal, Raji P.
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.27 MB
Your tags:
english, 2015
6
Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis
Gencik, Martin
,
Finsterer, Josef
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 2015
7
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
Dilzell, Kristen
,
Darcy, Diana
,
Sum, John
,
Wallerstein, Robert
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.18 MB
Your tags:
english, 2015
8
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
Mc Cormack, Adrian
,
Sharpe, Cynthia
,
Gregersen, Nerine
,
Smith, Warwick
,
Hayes, Ian
,
George, Alice M.
,
Love, Donald R.
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.72 MB
Your tags:
english, 2015
9
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Jerath, Nivedita U.
,
Crockett, Cameron D.
,
Moore, Steven A.
,
Shy, Michael E.
,
Weihl, Conrad C.
,
Chou, Tsui-Fen
,
Grider, Tiffany
,
Gonzalez, Michael A.
,
Zuchner, Stephan
,
Swenson, Andrea
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.76 MB
Your tags:
english, 2015
10
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis
Molinario, Rossana
,
Palumbo, Sara
,
Concolino, Paola
,
Rocchetti, Sandro
,
Rizza, Roberta
,
Scaglione, Giovanni Luca
,
Minucci, Angelo
,
Capoluongo, Ettore
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.09 MB
Your tags:
english, 2015
11
Exceptional Complex Chromosomal Rearrangements in Three Generations
Kartapradja, Hannie
,
Marzuki, Nanis Sacharina
,
Pertile, Mark D.
,
Francis, David
,
Suciati, Lita Putri
,
Anggaratri, Helena Woro
,
Ambarwati, Debby Dwi
,
Idris, Firman Prathama
,
Lesmana, Harry
,
Trimarsanto
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.09 MB
Your tags:
english, 2015
12
PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication
Dawson, Angelika J.
,
Cox, Janice
,
Hovanes, Karine
,
Spriggs, Elizabeth
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.30 MB
Your tags:
english, 2015
13
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
Valencia, Maria
,
Tabet, Lara
,
Yazbeck, Nadine
,
Araj, Alia
,
Ruiz-Perez, Victor L.
,
Charaffedine, Khalil
,
Fares, Farah
,
Badra, Rebecca
,
Farra, Chantal
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.59 MB
Your tags:
english, 2015
14
Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation
Gurbuz, Ali Sami
,
Salvarci, Ahmet
,
Ozcimen, Necati
,
Zamani, Ayse Gul
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.95 MB
Your tags:
english, 2015
15
Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
Hochstenbach, R.
,
Page-Christiaens, G. C. M. L.
,
van Oppen, A. C. C.
,
Lichtenbelt, K. D.
,
van Harssel, J. J. T.
,
Brouwer, T.
,
Manten, G. T. R.
,
van Zon, P.
,
Elferink, M.
,
Kusters, K.
,
Akkermans, O.
,
P
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2015
16
Different Cardiac Anomalies in Mother and Son with 4q-Syndrome
Marcì, Marcello
,
Guarina, Angela
,
Castiglione, M. Cristina
,
Sanfilippo, Nicola
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.04 MB
Your tags:
english, 2015
17
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome
Resim, Sefa
,
Kucukdurmaz, Faruk
,
Kankılıc, Nazım
,
Altunoren, Ozlem
,
Efe, Erkan
,
Benlioglu, Can
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.59 MB
Your tags:
english, 2015
18
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Sheridan, Molly B.
,
Wohler, Elizabeth
,
Batista, Denise A. S.
,
Applegate, Carolyn
,
Hoover-Fong, Julie
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.71 MB
Your tags:
english, 2015
19
Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism
Goitia, Veronica
,
Oquendo, Marcial
,
Stratton, Robert
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.78 MB
Your tags:
english, 2015
20
Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”
Cho, Sun-Mi
,
Hong, Bo Young
,
Kim, Yoonjung
,
Lee, Sang Guk
,
Yang, Jin-Young
,
Kim, Juwon
,
Lee, Kyung-A
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 2015
21
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
Kawahara, Tetsuya
,
Watanabe, Hiromi
,
Omae, Risa
,
Yamamoto, Toshiyuki
,
Inazu, Tetsuya
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.61 MB
Your tags:
english, 2015
22
Novel Mutation in a Patient with Cholesterol Ester Storage Disease
Lin, Patrick
,
Raikar, Sheela
,
Jimenez, Jennifer
,
Conard, Katrina
,
Furuya, Katryn N.
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 2015
23
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
Jacobsen, Jessie C.
,
Glamuzina, Emma
,
Taylor, Juliet
,
Swan, Brendan
,
Handisides, Shona
,
Wilson, Callum
,
Fietz, Michael
,
van Dijk, Tessa
,
Appelhof, Bart
,
Hill, Rosamund
,
Marks, Rosemary
,
Love, Donald R
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.61 MB
Your tags:
english, 2015
24
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
Zegre Amorim, Marta
,
Houghton, Jayne A. L.
,
Carmo, Sara
,
Salva, Inês
,
Pita, Ana
,
Pereira-da-Silva, Luis
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2015
25
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Jedraszak, Guillaume
,
Receveur, Aline
,
Andrieux, Joris
,
Mathieu-Dramard, Michèle
,
Copin, Henri
,
Morin, Gilles
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 2.30 MB
Your tags:
english, 2015
26
Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect
Mutlu-Albayrak, Hatice
,
Bene, Judit
,
Oflaz, Mehmet Burhan
,
Tanyalçın, Tijen
,
Çaksen, Hüseyin
,
Melegh, Bela
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 2015
27
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases
de la Hoz, Ana Belén
,
Maortua, Hiart
,
García-Rives, Ainhoa
,
Martínez-González, María Jesús
,
Ezquerra, Maitane
,
Tejada, María-Isabel
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.56 MB
Your tags:
english, 2015
28
Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene
Brender, Teva
,
Wallerstein, Donna
,
Sum, John
,
Wallerstein, Robert
Journal:
Case Reports in Genetics
Year:
2015
Language:
english
File:
PDF, 1.53 MB
Your tags:
english, 2015
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