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American Journal of Medical Genetics. Part A
|
November 23, 2022
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Martina Rimoldi, Berardo Rinaldi, Roberta Villa, et al.
Journal of the American College of Cardiology
|
November 6, 2020
Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy
Paolo Ferrazzi, Paolo Spirito, Irene Binaco, et al.
European Journal of Human Genetics : EJHG
|
July 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
Jesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy
Lidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
Frontiers in Genetics
|
March 20, 2023
Menkes disease complicated by concurrent ACY1 deficiency: A case report
Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, et al.
Prenatal Diagnosis
|
May 18, 2022
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome
Berardo Rinaldi, Claudia Cesaretti, Simona Boito, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2026
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2022
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
Giulia Rodari, Roberta Villa, Matteo Porro, et al.
International Journal of Molecular Sciences
|
February 11, 2023
<i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
April 12, 2023
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Silvia Masnada, Roberto Previtali, Paola Erba, et al.
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of 18
Search research articles
Search
Showing results (81-90 of 178) with videos related to
Sort By:
Page
of 18
American Journal of Medical Genetics. Part A
|
November 23, 2022
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Martina Rimoldi, Berardo Rinaldi, Roberta Villa, et al.
Journal of the American College of Cardiology
|
November 6, 2020
Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy
Paolo Ferrazzi, Paolo Spirito, Irene Binaco, et al.
European Journal of Human Genetics : EJHG
|
July 13, 2023
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
Jesse B Hayesmoore, Zahurul A Bhuiyan, Domenico A Coviello, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy
Lidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
Frontiers in Genetics
|
March 20, 2023
Menkes disease complicated by concurrent ACY1 deficiency: A case report
Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, et al.
Prenatal Diagnosis
|
May 18, 2022
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome
Berardo Rinaldi, Claudia Cesaretti, Simona Boito, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2026
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2022
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
Giulia Rodari, Roberta Villa, Matteo Porro, et al.
International Journal of Molecular Sciences
|
February 11, 2023
<i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
April 12, 2023
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Silvia Masnada, Roberto Previtali, Paola Erba, et al.
Page
of 18