Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia

[Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)].

Klinische Padiatrie·2004

[Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].

Zeitschrift fur Kardiologie·2004

[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature].

Klinische Padiatrie·2000

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

American journal of medical genetics·1999

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

European journal of human genetics : EJHG·1999

Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome.

Archives of dermatology·1997

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Humangenetik·1975

Climate associated variations in the human serum albumin level.

Humangenetik·1975

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Humangenetik·1975

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Humangenetik·1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Humangenetik·1975

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

Humangenetik·1975

'Complete devastation': How NSF gutted its social sciences directorate.

Science (New York, N.Y.)·2026

Seeing Through Color Blindness: Social Networks as a Mechanism for Discrimination.

The Journal of law & economics·2026

Discovery of the Novel HLA-C*08:22:06 Allele in a Taiwanese Individual.

HLA·2026

Case Report: Soft endoscopic treatment of Herlyn-Werner-Wunderlich syndrome: an innovative clinical procedure for hymen preservation.

Frontiers in medicine·2026

Retraction Statement: Paper by Ting Guo, Wenyu Li, and Sijian Wen Entitled "Clinical Outcomes of Ritlecitinib in Treatment-Refractory Alopecia Areata: A Single-Center Real-World Study" [Skin Appendage Disord, 2026; DOI: 10.1159/000553570].

Skin appendage disorders·2026

Workforce Entry and Employment Trajectories Among Adolescent and Young Adult Hematopoietic Cell Transplant Survivors Without Prior Employment.

Transplantation and cellular therapy·2026

Related Experiment Videos

Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia

Related Concept Videos

[Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)].

[Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].

[Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): case report and review of the literature].

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome.

Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

Climate associated variations in the human serum albumin level.

A technique for in situ karyotyping of primary amniotic fluid cell cultures.

Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

The Bf locus in the HLA region of chromosome 6: linkage and association studies.

'Complete devastation': How NSF gutted its social sciences directorate.

Seeing Through Color Blindness: Social Networks as a Mechanism for Discrimination.

Discovery of the Novel HLA-C*08:22:06 Allele in a Taiwanese Individual.

Case Report: Soft endoscopic treatment of Herlyn-Werner-Wunderlich syndrome: an innovative clinical procedure for hymen preservation.

Retraction Statement: Paper by Ting Guo, Wenyu Li, and Sijian Wen Entitled "Clinical Outcomes of Ritlecitinib in Treatment-Refractory Alopecia Areata: A Single-Center Real-World Study" [Skin Appendage Disord, 2026; DOI: 10.1159/000553570].

Workforce Entry and Employment Trajectories Among Adolescent and Young Adult Hematopoietic Cell Transplant Survivors Without Prior Employment.

Related Experiment Videos

Sjögren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia

Related Concept Videos

Related Articles