Results 301 to 310 of about 145,893 (342)
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Sabine, Rudnik-Schöneborn +2 more
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Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes.
Sabine, Rudnik-Schöneborn +2 more
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Journal of Craniofacial Surgery, 2009
Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
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Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
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European Respiratory Journal, 1991
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
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Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
openaire +2 more sources
The Journal of Hand Surgery, 2009
Hypoplasia of the thumb refers to a spectrum of clinical abnormalities ranging from a slightly small digit to complete absence (or aplasia) of the thumb unit. As a component of radial dysplasia, thumb hypoplasia can be either an isolated entity or seen in conjunction with other elements of radial longitudinal deficiency.
Scott A, Riley, Ronald C, Burgess
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Hypoplasia of the thumb refers to a spectrum of clinical abnormalities ranging from a slightly small digit to complete absence (or aplasia) of the thumb unit. As a component of radial dysplasia, thumb hypoplasia can be either an isolated entity or seen in conjunction with other elements of radial longitudinal deficiency.
Scott A, Riley, Ronald C, Burgess
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The Journal of Hand Surgery, 2013
Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb.
Francisco, Soldado +2 more
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Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb.
Francisco, Soldado +2 more
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Endocrinology and Metabolism Clinics of North America, 2017
This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well ...
Mariam, Gangat, Sally, Radovick
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This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well ...
Mariam, Gangat, Sally, Radovick
openaire +2 more sources