Results 61 to 70 of about 9,985 (213)

Marine Flora and Fauna of the Northeastern United States: Erect Bryozoa [PDF]

open access: yes, 1991
Forty-nine species of erect Bryozoa from a broad range of Cyclostome, Ctenostome, and Cheilostome families are described and illustrated, and an artificial dichotomous key is provided for their identification.
Hayward, Peter J., Ryland, John S.
core  

Genetic correlations and clinical value of increased renal echogenicity in fetuses identified by prenatal ultrasonography

open access: yesPrecision Medical Sciences, Volume 15, Issue 1, Page 35-41, March 2026.
The corresponding images are as follows: enhanced fetal renal echo, enhanced fetal renal echo complicated with hydronephrosis, cardiac abnormality, chromosome microarray analysis: microdeletion of chromosome 17, whole‐exome sequencing: microdeletion of chromosome 17.
Haihong Liu   +4 more
wiley   +1 more source

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2007
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline
Chih-Ping Chen
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

The Imperforate Anus Psychosocial Questionnaire (IAPSQ): Its construction and psychometric properties

open access: yesChild and Adolescent Psychiatry and Mental Health, 2009
The origin of the present study was to develop the liaison work between the disciplines of child and adolescent psychiatry and paediatric surgery and nursing, so as to improve the quality of treatment and care of a group of children with imperforate anus
Christensson Kyllike   +3 more
doaj   +1 more source

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2017
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS).
Dong-Yoon Yoo   +4 more
doaj   +1 more source

گزارش 11 مورد نتايج جراحی بی‌اختياری مدفوع به علت جابجايی رکتوم در کودکان مقعد بسته متعاقب عمل آنورکتوپلاستی [PDF]

open access: yes, 2010
مينه و هدف: بی‌اختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته، يکی از عوارض اين عمل در کودکان به شمار می‌آيد. جابجايی رکتوم و نقص عضله اسفنکتر از علل نسبتاً شايع بی‌اختياری مدفوع متعاقب عمل آنورکتوپلاستی در بيماران مقعد بسته می‌باشد.
دلشاد, صلاح الدین
core  

LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT [PDF]

open access: yes, 2011
Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and ...
Angotti, R   +4 more
core   +1 more source

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