Volume 2016

Case Reports in Genetics

Volume 2016

1

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Biha, Noura, Ghaber, S. M., Hacen, M. M., Collet, Corinne

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 3.48 MB

english, 2016

2

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

3

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Saman Kumara, L. P. C., Dissanayake, V. H. W.

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.41 MB

english, 2016

4

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 3.70 MB

english, 2016

5

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 2.37 MB

english, 2016

6

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Georgiou, Theodoros, Mavrikiou, Gavriella, Alexandrou, Angelos, Spanou-Aristidou, Elena, Savva, Isavella, Christodoulides, Theodoros, Krasia, Maria, Christophidou-Anastasiadou, Violetta, Sismani, Caro

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 2.17 MB

english, 2016

7

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Zimmermann, Anca, Rossmann, Heidi, Bucerzan, Simona, Grigorescu-Sido, Paula

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.44 MB

english, 2016

8

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Swaika, Abhisek, Boczek, Nicole J., Sood, Neha, Guthrie, Kimberly, Klee, Eric W., Agrawal, Ankit, Dimberg, Elliot L., Ailawadhi, Sikander

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

9

Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

10

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Kale, Trupti, Philip, Melissa

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.18 MB

english, 2016

11

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

Cao, Yang, Hoppman, Nicole L., Kerr, Sarah E., Sattler, Christopher A., Borowski, Kristi S., Wick, Myra J., Highsmith, W. Edward, Aypar, Umut

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.59 MB

english, 2016

12

Adult Prader-Willi Syndrome: An Update on Management

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 1.30 MB

english, 2016

13

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Vargiami, Euthymia, Ververi, Athina, Al-Mutawa, Hamda, Gioula, Georgia, Gerou, Spyridon, Rouvalis, Fotios, Kambouris, Marios, Zafeiriou, Dimitrios I.

Journal:

Case Reports in Genetics

Year:

2016

Language:

english

File:

PDF, 2.80 MB

english, 2016

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