Search Results - "genetic testing"

Muir Torre syndrome and in vitro fertilization: One family's experience by Surget Cox, MD, Janellen Smith, MD

Connect to this object online.

Crystalline nephropathy due to adenine phosphoribosyl transferase deficiency as a cause of renal allograft dysfunction by Umapati Hegde, Rajapurkar Mohan, Gang Sishir, Amit Jojera, Shailesh Soni

Connect to this object online.

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants by Jing Guo, Rong He, Zhi-qin Mao

Connect to this object online.

Female obesity increases the risk of preterm birth of single frozen-thawed euploid embryos: a retrospective cohort study by Xitong Liu, Juanzi Shi

Connect to this object online.

The Impact of Maternal Age on Chromosomal Aneuploidy, Blastocyst Quality, and Pregnancy Outcomes During Intracytoplasmic Sperm Injection Cycles by Shahrzad Aghajani, Ali Salehzadeh, Fatemeh Ghasemiyan, Marziyeh Mehrafza, Ahmad Hosseini

Connect to this object online.

A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result by Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian, Jie Qiao

Connect to this object online.

Association between clinical and IVF laboratory parameters and miscarriage after single euploid embryo transfers by María del Carmen Nogales, María Cruz, Silvia de Frutos, Eva María Martínez, María Gaytán, Marta Ariza, Fernando Bronet, Juan A. Garcia-Velasco

Connect to this object online.

Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review by Francesco Inchingolo, Irene Ferrara, Fabio Viapiano, Anna Maria Ciocia, Irene Palumbo, Mariafrancesca Guglielmo, Alessio Danilo Inchingolo, Andrea Palermo, Ioana Roxana Bordea, Angelo Michele Inchingolo, Daniela Di Venere, Gianna Dipalma

Connect to this object online.

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period by Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI

Connect to this object online.

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report by Ilya S Dantsev, Mariia A Parfenenko, Gulnara M Radzhabova, Ekaterina A Nikolaeva

Connect to this object online.

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea by Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim

Connect to this object online.

Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study by Xue Yang, Ruimiao Bai, Juan Zhang, Yunfan Yang, JuanJuan Zhang, Baozhu Wang, Zhankui Li, Xiping Yu

Connect to this object online.

A novel mutation in an adolescent presenting with growth and pubertal delay by Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild

Connect to this object online.

The strong association of left-side heart anomalies with Kabuki syndrome by Ja Kyoung Yoon, Kyung Jin Ahn, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Chung Il Noh, Jung Min Ko

Connect to this object online.

Knowledge and Anxiety Related to Hereditary Ovarian Cancer in Serous Ovarian Cancer Patients by Sang Hee Lee, Hyangkyu Lee, Myong Cheol Lim, Sue Kim

Connect to this object online.

Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience by Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti, Fabrizio Drago

Connect to this object online.

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient by Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

Connect to this object online.

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome by Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez

Connect to this object online.

Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature by Xiaodi Han, Jie Deng, Chunhong Chen, Xiaohui Wang, Fang Fang, Hua Li, Jie Luo, Jie Wu

Connect to this object online.

Case Report: A Novel MVK Missense Mutation in the Sporadic Porokeratosis Ptychotropica in China by Mei Q, Xing F, Yin Y, Yuan C

Connect to this object online.