Apparent autosomal recessive inheritance of the Treacher Collins syndrome

Resonance Raman spectroscopic study of nitrophorin 1, a nitric oxide-binding heme protein from Rhodnius prolixus, and its nitrosyl and cyano adducts.

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Cyanide complexes of iron corrolates: spin delocalization and autoreduction.

Inorganic chemistry·2001

Ligand-induced heme ruffling and bent no geometry in ultra-high-resolution structures of nitrophorin 4.

Biochemistry·2001

1H pulsed ENDOR and ESEEM evidence that the bis-imidazole complexes of iron(III) tetraphenylchlorin and tetraphenylporphyrin have the same order of g values, and the same electronic ground state.

Journal of the American Chemical Society·2001

Molecular structures and magnetic resonance spectroscopic investigations of highly distorted six-coordinate low-spin iron(III) porphyrinate complexes.

Journal of the American Chemical Society·2001

Electronic effects in transition metal porphyrins. 10. Effect of ortho substituents on the temperature dependence of the NMR spectra of a series of spin-admixed perchloratoiron(III) tetrakis(2,6- or 2,4,6-phenyl substituted)porphyrinates.

Inorganic chemistry·2001

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

Birth defects original article series·1996

Delving into the clinical and genetic spectrum of NLSDM: A case study.

Journal of neuromuscular diseases·2026

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.

Molecular genetics & genomic medicine·2026

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Neurogenetics·2026

Bidirectional associations between brain functional networks and sleep disorders: A bidirectional Mendelian randomization study.

Medicine·2026

Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution.

Medicine·2026

Genetic evidence for CTSH as a potential therapeutic target in sepsis: A Mendelian randomization and colocalization study.

Medicine·2026

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Apparent autosomal recessive inheritance of the Treacher Collins syndrome

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Resonance Raman spectroscopic study of nitrophorin 1, a nitric oxide-binding heme protein from Rhodnius prolixus, and its nitrosyl and cyano adducts.

Cyanide complexes of iron corrolates: spin delocalization and autoreduction.

Ligand-induced heme ruffling and bent no geometry in ultra-high-resolution structures of nitrophorin 4.

1H pulsed ENDOR and ESEEM evidence that the bis-imidazole complexes of iron(III) tetraphenylchlorin and tetraphenylporphyrin have the same order of g values, and the same electronic ground state.

Molecular structures and magnetic resonance spectroscopic investigations of highly distorted six-coordinate low-spin iron(III) porphyrinate complexes.

Electronic effects in transition metal porphyrins. 10. Effect of ortho substituents on the temperature dependence of the NMR spectra of a series of spin-admixed perchloratoiron(III) tetrakis(2,6- or 2,4,6-phenyl substituted)porphyrinates.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Multisite neural tube closure in humans.

Delving into the clinical and genetic spectrum of NLSDM: A case study.

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Bidirectional associations between brain functional networks and sleep disorders: A bidirectional Mendelian randomization study.

Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution.

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Apparent autosomal recessive inheritance of the Treacher Collins syndrome

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