Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man (Q36216336)

12 August 2017

1 reference

title

Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8276-2_2

15 May 2022

1

Opitz JM

1 reference

12 August 2017

J. Herrmann

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A160752

15 May 2022

J. C. Pettersen

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15 May 2022

E. T. Bersu

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15 May 2022

S. C. Colacino

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A160752

15 May 2022

language of work or name

1 reference

1 January 1979

1 reference

full work available at URL

12 August 2017

http://link.springer.com/content/pdf/10.1007/978-1-4615-8276-2_2

1 reference

https://api.crossref.org/works/10.1007/978-1-4615-8276-2_2

Advances in human genetics

15 May 2022

published in

1 reference

12 August 2017

volume

9

1 reference

12 August 2017

page(s)

71-164

1 reference

Birth defects original article series

12 August 2017

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15 May 2022

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Transdetermination in Cells

18 December 2022

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The SC phocomelia and the Roberts syndrome: nosologic aspects

18 December 2022

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Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

18 December 2022

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Familial holoprosencephaly with endocrine dysgenesis.

18 December 2022

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Genetic heterogeneity of cebocephaly

18 December 2022

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Genetic control of development of the cellular slime mold, Dictyostelium discoideum

18 December 2022

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Intrauterine growth retardation

18 December 2022

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Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases

18 December 2022

76

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Further studies on the genetic heterogeneity of cebocephaly

18 December 2022

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Oxidative energy deficiency. II. Human achondroplasia

18 December 2022

84

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Autosomal trisomy in a chimpanzee: resemblance to Down's syndrome

18 December 2022

85

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Arhinencephaly and multiple developmental anomalies occurring in a human full-term foetus.

18 December 2022

94

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Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome

18 December 2022

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Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

18 December 2022

101

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Cornelia de Lange syndrome: evolution of the phenotype

18 December 2022

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Multiple congenital anomaly caused by an extra autosome

18 December 2022

113

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A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears

18 December 2022

119

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The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet

18 December 2022

120

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5alpha-reductase activity of genital and nongenital skin fibroblasts from patients with 5alpha-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism

18 December 2022

122

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THE CELL CYCLE AND CHROMOSOME ANOMALIES

18 December 2022

124

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The pathogenesis of the first and second branchial arch syndrome

18 December 2022

125

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A screening test for patients suspected of having Turner syndrome

18 December 2022

126

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A methodology for establishing a diagnostic index for syndromes of unknown etiology

18 December 2022

127

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Glossary of Genetics and Cytogenetics – Classical and Molecular

18 December 2022

130

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Control of developing fields

18 December 2022

132

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Replication rate and lifespan of cultured fibroblasts in Down's syndrome

18 December 2022

135

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18 December 2022

Syndromatology

136

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Studies on Down's syndrome in tissue culture. I. Growth rates and protein contents of fibroblast cultures

18 December 2022

137

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Amplified developmental instability in Down's syndrome

18 December 2022

139

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[Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].

18 December 2022

140

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An approach to clinical dysmorphology

18 December 2022

141

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The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21

18 December 2022

152

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The Somatic Cell Genetics of Human Interferon: Assignment of Human Interferon Loci to Chromosomes 2 and 5

18 December 2022

153

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A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls

18 December 2022

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Spontaneous occurrence of chromosome abnormality in cats

18 December 2022

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A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis

18 December 2022

160

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Trisomy 19 in the laboratory mouse. I. Frequency in different crosses at specific developmental stages and relationship of trisomy to cleft palate.

18 December 2022

163

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Trisomy 19 in the laboratory mouse. II. Intra-uterine growth and histological studies of trisomics and their normal littermates

18 December 2022

164

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Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies).

18 December 2022

166

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18 December 2022

Identifiers

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