Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology·2018

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology·2018

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Clinical genetics·2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Clinical genetics·2018

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Clinical genetics·2018

TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.

Genetic counseling (Geneva, Switzerland)·2018

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

Genetic counseling (Geneva, Switzerland)·2018

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

Genetic counseling (Geneva, Switzerland)·2018

MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.

Genetic counseling (Geneva, Switzerland)·2018

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

Genetic counseling (Geneva, Switzerland)·2018

CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.

Genetic counseling (Geneva, Switzerland)·2018

[Masked pediatric pathological femoral fracture : Case report of a sarcoma-associated femoral fracture after adequate trauma].

Unfallchirurgie (Heidelberg, Germany)·2026

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.

Journal of human genetics·2026

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

American journal of medical genetics. Part A·2026

Recombinant ADAMTS13 in congenital thrombotic thrombocytopenic purpura: final analysis from a randomized phase 3 trial.

Blood·2026

Bridging pediatric and adult neuro-oncology: Insights into adolescents and young adults (AYA) central nervous system tumors.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026

Determinants associated with lower HPV vaccination uptake in the school-based program for girls - A follow-up of the Swedish National Immunization Program, 2013-2023.

Vaccine·2026

Related Experiment Videos

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

Related Concept Videos

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.

MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.

BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.

CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.

[Masked pediatric pathological femoral fracture : Case report of a sarcoma-associated femoral fracture after adequate trauma].

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

Recombinant ADAMTS13 in congenital thrombotic thrombocytopenic purpura: final analysis from a randomized phase 3 trial.

Bridging pediatric and adult neuro-oncology: Insights into adolescents and young adults (AYA) central nervous system tumors.

Determinants associated with lower HPV vaccination uptake in the school-based program for girls - A follow-up of the Swedish National Immunization Program, 2013-2023.

Related Experiment Videos

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child

Abstract:

Related Concept Videos

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