Premature thelarche in Rubinstein-Taybi syndrome

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

American journal of medical genetics. Part A·2026

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Congenital anomalies·2026

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Molecular syndromology·2025

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Clinical genetics·2025

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Endocrine journal·2025

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

European journal of human genetics : EJHG·2025

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Development of Cracks in the Ice Resources for Aboriginal and Torres Strait Islander Peoples, a Culturally Appropriate Evidence-Based Online Community Toolkit About Crystal Methamphetamine: Mixed Methods Study.

JMIR formative research·2026

The aberrant right subclavian artery and non-recurrent laryngeal nerve: a cadaveric study.

Folia morphologica·2026

4000-year-old painted plaque from Southeast Indonesia reveals Austronesian Painting Tradition preceded Neolithic pottery.

Proceedings of the National Academy of Sciences of the United States of America·2026

First record of Genus Sphenoderia Schlumberger, 1845 (Phylum Cercozoa: Euglyphida) from India.

Zootaxa·2026

Notes on the Scirtidae of Guatemala. I. A new species of Ora Clark, 1865 (Coleoptera: Scirtidae) from Guatemala and Texas, USA.

Zootaxa·2026

Southwestern Atlantic species of Austinixa Heard & Manning, 1997 (Brachyura, Pinnotheridae): redescription of A. leptodactyla (Coelho, 1997) and A. patagoniensis (Rathbun, 1918), and remarks on the taxonomic status of A. aidae (Righi, 1967).

Zootaxa·2026

Related Experiment Videos

Premature thelarche in Rubinstein-Taybi syndrome

Related Concept Videos

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Development of Cracks in the Ice Resources for Aboriginal and Torres Strait Islander Peoples, a Culturally Appropriate Evidence-Based Online Community Toolkit About Crystal Methamphetamine: Mixed Methods Study.

The aberrant right subclavian artery and non-recurrent laryngeal nerve: a cadaveric study.

4000-year-old painted plaque from Southeast Indonesia reveals Austronesian Painting Tradition preceded Neolithic pottery.

First record of Genus Sphenoderia Schlumberger, 1845 (Phylum Cercozoa: Euglyphida) from India.

Notes on the Scirtidae of Guatemala. I. A new species of Ora Clark, 1865 (Coleoptera: Scirtidae) from Guatemala and Texas, USA.

Southwestern Atlantic species of Austinixa Heard & Manning, 1997 (Brachyura, Pinnotheridae): redescription of A. leptodactyla (Coelho, 1997) and A. patagoniensis (Rathbun, 1918), and remarks on the taxonomic status of A. aidae (Righi, 1967).

Related Experiment Videos

Premature thelarche in Rubinstein-Taybi syndrome

Related Concept Videos

Related Articles