Results 111 to 120 of about 512,319 (345)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong   +10 more
wiley   +1 more source

Interpersonal relationships between professionals and mothers of premature from Kangaroo-Unit [PDF]

open access: yesRevista Brasileira em Promoção da Saúde, 2010
Objective: To understand the interpersonal relationships between professionals and mothers of premature newborns of the Kangaroo Unit. Methods: This was an exploratory study of qualitative approach.
Francisca Eliene de Oliveira Callou   +3 more
doaj  

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds   +5 more
wiley   +1 more source

Relationship between Maternal Serum Copper Level and Birth Weight Neonate [PDF]

open access: yes
Background and Objectives: Low birth weight (LBW) is a major public health problem. LBW is associated with increased neonatal morbidity and mortality.
انتشاری مقدم, افسانه   +4 more
core  

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

The Impact of Induced Abortion on Birth Outcomes in the U.S. [PDF]

open access: yes
This paper examines the impact of induced abortion on birth outcomes by treating abortion as an endogenous input into the production of infant health.
Theodore J. Joyce
core  

Kinerja Bidan Desa dalam Pelayanan Antenatal Terkait Upaya Pencegahan Bayi Berat Lahir Rendah di Wilayah Kabupaten Banyumas Tahun 2011 [PDF]

open access: yes, 2011
Universitas Diponegoro Program Pascasarjana Program Magister Ilmu Kesehatan Masyarakat Konsentrasi Administrasi dan Kebijakan Kesehatan Minat Manajemen Kesehatan Ibu dan Anak 2011 ABSTRAK Anita Widiastuti Kinerja Bidan Desa dalam Pelayanan ...
WIDIASTUTI, Anita
core  

Maternal serum zinc and copper and infant birth weight [PDF]

open access: yes
Objective: Trace element deficiencies have been documented to play an important role in determination of the fetal outcome. It has been reported that the pregnant women in developing countries consume diets with a lower density of minerals and vitamins ...
انتشاری مقدم, افسانه   +5 more
core  

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

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