Results 201 to 210 of about 344,430 (215)

Optimization of Preimplantation Genome Profiling Supports Genomic Selection in Cattle. [PDF]

Cells
Yan S, Yan S, Cheng Y, Cui H, Pang Y, Si J, Jiang L, Sun D, Pauciullo A, Lenstra JA, Zeng S, Zhang Y.   +11 more
europepmc   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Reprogramming the inactive X chromosome: dynamics and insights from the germline. [PDF]

Biochem Soc Trans
Moyano Rodriguez Y, Borensztein M.
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

ImageNet pre-training and two-step transfer learning in chromosome image classification. [PDF]

Sci Rep
Chen T, Xie C, Zhang W, Li Y, Ke W, Li T, Huang X, Li K.   +7 more
europepmc   +1 more source

No Evidence of Impact of Genetic Sex on Hyperthermia-Induced Neural Tube Defects in Chicken Embryos. [PDF]

Birth Defects Res
Wang Y, Ryan AK, Naumova AK.
europepmc   +1 more source

Common variation in meiosis genes shapes human recombination and aneuploidy. [PDF]

Nature
Carioscia SA, Biddanda A, Starostik MR, Tang X, Hoffmann ER, Demko ZP, McCoy RC.   +6 more
europepmc   +1 more source

A recipe for chaos: Extrachromosomal DNA and the hallmarks of cancer. [PDF]

Cell
Wong IT, Bailey C, Wu S, Henssen AG, Cravatt BF, Chen ZJ, Bafna V, Jamal-Hanjani M, Swanton C, Chang HY, Mischel PS.   +10 more
europepmc   +1 more source

Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China. [PDF]

Med Sci Monit
Wang H, Zhang L, Yang T, Jia Y, Liu R, Jia Z, Liu Y, Bai G.   +7 more
europepmc   +1 more source

Predictors of Relapse and Post‐Relapse Outcomes After Frontline Blinatumomab in Philadelphia Chromosome‐Negative B‐ALL

American Journal of Hematology, EarlyView.
Sankalp Arora, Hagop Kantarjian, Koji Sasaki, Nitin Jain, Zhouxuan Li, Wei Qiao, Sanam Loghavi, Guilin Tang, Caitlin Rausch, Farhad Ravandi, Fadi G. Haddad, Jayastu Senapati, Guillermo Montalban Bravo, Alexandre Bazinet, Rita Khouri, Rebecca Garris, Guillermo Garcia‐Manero, Nicholas J. Short, Elias Jabbour   +18 more
wiley   +1 more source