Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and "normal" ovarian development

Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Journal of neurology, neurosurgery, and psychiatry·1995

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Journal of medical genetics·1995

Clinical profile of Angelman syndrome at different ages.

American journal of medical genetics·1995

Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

Genetic counseling (Geneva, Switzerland)·1995

Costello syndrome: the natural history of a true postnatal growth retardation syndrome.

Genetic counseling (Geneva, Switzerland)·1995

Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.

Genetic counseling (Geneva, Switzerland)·1995

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Allene Cyclopropanation with Fluoroalkyl Carbenes.

Journal of the American Chemical Society·2026

Carbenylative Buchwald-Hartwig Coupling of Aryl Halides, N-Tosylhydrazones, and Anilines.

Journal of the American Chemical Society·2026

Support-free hydrophobic solid amine polymer for direct air capture of carbon dioxide.

Chemical communications (Cambridge, England)·2026

Pd/Brønsted acid-catalyzed sulfonylation of skipped enynes and cyclopropyl alkynes: Access to 2,4-dienyl sulfones.

Chemical communications (Cambridge, England)·2026

Deprotective Alkylation: A Platform for Alcohol-to-Amine Interconversion Using Nonafluoromesitylenesulfonamides.

Angewandte Chemie (International ed. in English)·2026

Base-controlled divergent oxidative dimerization of allomaltol-containing enolates: access to distinct diastereomers of 1,4-diketones.

Organic & biomolecular chemistry·2026

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Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and "normal" ovarian development

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Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Clinical profile of Angelman syndrome at different ages.

Fragile X boys: evolution of the mental age in childhood. Preliminary data on 10 prepubertal boys.

Costello syndrome: the natural history of a true postnatal growth retardation syndrome.

Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Allene Cyclopropanation with Fluoroalkyl Carbenes.

Carbenylative Buchwald-Hartwig Coupling of Aryl Halides, N-Tosylhydrazones, and Anilines.

Support-free hydrophobic solid amine polymer for direct air capture of carbon dioxide.

Pd/Brønsted acid-catalyzed sulfonylation of skipped enynes and cyclopropyl alkynes: Access to 2,4-dienyl sulfones.

Deprotective Alkylation: A Platform for Alcohol-to-Amine Interconversion Using Nonafluoromesitylenesulfonamides.

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Y-chromosome mosaicism with ring Y-chromosome/idic(Y)(p11.2) and "normal" ovarian development

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