Results 291 to 300 of about 759,619 (365)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

A Comparison of Fear of Childbirth and Attitudes Toward Participation in Birth in Expectant Fathers With Primiparous and Multiparous Partners. [PDF]

Am J Mens Health
Dogan E K.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Understanding fathers' help-seeking: A scoping review. [PDF]

J Family Med Prim Care
Fukita S, Kawasaki H, Yorozuya K, Morita T.   +3 more
europepmc   +1 more source

Subtle discrimination of fathers in relation to leave-taking: a comparative study of Slovakia and Poland. [PDF]

Front Sociol
Dančíková Z, Muter M.
europepmc   +1 more source

Parenting experiences of divorced fathers in Türkiye. [PDF]

BMC Psychol
Yıldız Önal Y, Baştemur Ş, Uçar S.
europepmc   +1 more source

Preconception One-Carbon Metabolism Nutrient Levels in Preparing for Pregnancy Couples and Spontaneous Pregnancy Loss: A Prospective Cohort Study. [PDF]

MedComm (2020)
Chen X, Zhang Y, Yang Q, Zhu H, Hu J, Huang J, Jin L, Zhang X, Dou Y, He W, He Y, Chen H, Yao Q, Peng Y, Ma X, Sheng W, Huang G, Yan W, SPCC group.   +18 more
europepmc   +1 more source

Paternal postpartum depression and its associated factors among partners of postpartum women at Dessie Town, Northeast Ethiopia, 2023: a community-based cross-sectional study. [PDF]

BMJ Open
Assefa A, Workie A, Assefaw M, Abate AB.
europepmc   +1 more source