Results 61 to 70 of about 66,455 (315)

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Father's Involvement in Sex Education for Children in Muslim Minority Countries

Jurnal Pendidikan Agama Islam
Purpose – To analyze how fathers are involved in educating their children about sex and morality in countries with Muslim minorities. Design/methods/approach – The research is a field study located in Australia, specifically in Sydney and Melbourne ...
Azam Syukur Rahmatullah, Dewi Sekar Kencono, Mohd Sukki Othman, Muhammad Suyudi, Akbar Nur Aziz   +4 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Radicalism and the limits of reform : the case of John Reed [PDF]

, 1980
Poet, journalist, editorial board member of the Masses and founding member of the Communist Labor Party, John Reed is a hero in both the worlds of cultural and political radicalism.
Rosenstone, Robert A.
core  

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

Exploration of the relationship between father role salience and levels of involvement with their preschool children

Journal of Social Work Education and Practice, 2023
Social expectations of the father’s role in the family have changed considerably in the past four decades. The purpose of this study was to examine the various factors that influence both father role salience and father involvement with their preschool ...
Glenn Stone, Heather Reister
doaj   +2 more sources

Role of fathers in early years of child’s life

International Journal of Endorsing Health Science Research, 2013
The study focus on investigating the perceptions and practices of fathers and its impact on children’s development. It attempts to establish the effect of father’s involvement in children life. Very few studies to date could be found on this subject area.
Mona Minhaz, Ali Jindani, Sanober Nadeem
doaj   +1 more source

Does Family Composition Affect Social Networking? [PDF]

This paper analyzes the effect of family composition, and in particular the number of children, the age gap between the oldest and youngest child and the age of the youngest child, on parents' involvement in social networks.
Heizler (Cohen), Odelia, Kimhi, Ayal
core  

Boston University Repertory, Women's, and Men's Choruses, April 22, 2001 [PDF]

, 2001
This is the concert program of the Boston University Repertory, Women's, and Mens Choruses on Sunday, April 22, 2001 at 8:00 p.m., at the Boston University Concert Hall, 855 Commonwealth Avenue, Boston, Massachusetts.
School of Music, Boston University
core  

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source