1. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. (10th January 2019) Authors: Rincon, Alejandra; Paez-Rojas, Paola; Suárez-Obando, Fernando Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2019(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13). (11th November 2014) Authors: Khawandanah, Mohamad; Gehrs, Bradley; Li, Shibo; Holter Chakrabarty, Jennifer; Cherry, Mohamad Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Newborn with Panhypopituitarism and Seizures. (1st February 2017) Authors: Kale, Trupti; Patil, Rachit; Pandit, Ramesh Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation. (29th August 2017) Authors: Sánchez, Ana Isabel; Rojas, Jorge Armando Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene. (7th November 2018) Authors: Volk, Charles; Matwiyoff, Gregory Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features. (2nd June 2014) Authors: Roberts, Jennifer L.; Gandomi, Stephanie K.; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G. Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. (19th January 2017) Authors: Sánchez-Montenegro, Carlos; Vilanova-Sánchez, Alejandra; Barrena-Delfa, Saturnino; Tenorio, Jair; Santos-Simarro, Fernando; García-Miñaur, Sixto; Lapunzina, Pablo; Martínez-Martínez, Leopoldo Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism. (3rd February 2016) Authors: Carter, Jennifer; Zombor, Melinda; Máté, Adrienn; Sztriha, László; Waters, Jonathan J. Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies. (31st January 2016) Authors: Lo-A-Njoe, Shirley; van der Veken, Lars T.; Vermont, Clementien; Rafael-Croes, Louise; Keizer, Vincent; Hochstenbach, Ron; Knoers, Nine; van Haelst, Mieke M. Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. (30th April 2015) Authors: Valencia, Maria; Tabet, Lara; Yazbeck, Nadine; Araj, Alia; Ruiz-Perez, Victor L.; Charaffedine, Khalil; Fares, Farah; Badra, Rebecca; Farra, Chantal Other Names: Cotter Philip D. Academic Editor. Journal: Case reports in genetics Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗