Results 311 to 320 of about 849,858 (379)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Mothers' Views on the Use of Oral Glucose for Pain Relief in a Neonatal Intensive Care Unit. [PDF]

Nurs Crit Care
Palomaa AK, Talus E, Keskitalo-Leskinen S, Pölkki T.   +3 more
europepmc   +1 more source

A case of large oropharyngeal glial heterotopia causing airway obstruction in a newborn: A case report and brief review of literature

Birhanu Reta, Amanuel Tesfay, Moges Tadesse Abebe, Nebiat Zerabiruk Embaye, Gebreyohans Tesfay Kidanu, Hidaya Yahya Mohammed   +5 more
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Timing Routines With Patience: A Focused Ethnography on Newborn Breastfeeding in Hospitals. [PDF]

Matern Child Nutr
Frandsen AL, Rytter MJH, Haslund-Thomsen H, Broberg L, Schiøtz M, Beck M.   +5 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Associations of glyphosate and aminomethylphosphonic acid (AMPA) concentrations with birth outcomes in pregnant women from the Midwestern U.S. [PDF]

Int J Hyg Environ Health
Morris KA, Cinzori ME, Ryva BA, Talge N, Pathak KV, Lovell B, Pirrotte P, Schantz SL, Strakovsky RS.   +8 more
europepmc   +1 more source

Biochemical Effects of Natural and Nanoparticle Fish and Algal Oils in Gilt Pregnancy Diets on Base Excision Repair Enzymes in Newborn Piglets—Socioeconomic Implications for Regional Pig Farming—Preliminary Results

Paweł Kowalczyk, Monika Sobol, J. Makulska, A. Węglarz, Apoloniusz Kurylczyk, Mateusz Schabikowski, G. Skiba   +6 more
openalex   +1 more source