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Pediatric Nephrology (Berlin, Germany)
|
January 20, 2011
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
Audrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, et al.
American Journal of Obstetrics and Gynecology
|
May 8, 2020
Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2
Audrey Lamouroux, Tania Attie-Bitach, Jelena Martinovic, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
European Journal of Medical Genetics
|
December 2, 2025
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant
Andreea-Catalina Fetecau, Sarah Grotto, Olivia Anselem, et al.
Plos One
|
August 1, 2012
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
Viviane Baral, Asma Chaoui, Yuli Watanabe, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 3, 2012
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
Andrea Aguilar, Alice Meunier, Laetitia Strehl, et al.
American Journal of Medical Genetics. Part A
|
October 6, 2015
First fetal case of the 8q24.3 contiguous genes syndrome
Constance Wells, Emmanuel Spaggiari, Valérie Malan, et al.
Journal of Medical Genetics
|
August 4, 2022
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, et al.
Harefuah
|
January 9, 2016
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]
Ula Aalimi, Etty Spiegel, Ilana Chervinsky, et al.
Birth Defects Research
|
April 15, 2022
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature
Lyse Ruaud, Nathalie Roux, Lucile Boutaud, et al.
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Search research articles
Search
Showing results (1-10 of 74) with videos related to
Sort By:
Page
of 8
Pediatric Nephrology (Berlin, Germany)
|
January 20, 2011
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney
Audrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, et al.
American Journal of Obstetrics and Gynecology
|
May 8, 2020
Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2
Audrey Lamouroux, Tania Attie-Bitach, Jelena Martinovic, et al.
American Journal of Medical Genetics. Part A
|
September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
European Journal of Medical Genetics
|
December 2, 2025
Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant
Andreea-Catalina Fetecau, Sarah Grotto, Olivia Anselem, et al.
Plos One
|
August 1, 2012
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2
Viviane Baral, Asma Chaoui, Yuli Watanabe, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 3, 2012
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
Andrea Aguilar, Alice Meunier, Laetitia Strehl, et al.
American Journal of Medical Genetics. Part A
|
October 6, 2015
First fetal case of the 8q24.3 contiguous genes syndrome
Constance Wells, Emmanuel Spaggiari, Valérie Malan, et al.
Journal of Medical Genetics
|
August 4, 2022
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, et al.
Harefuah
|
January 9, 2016
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]
Ula Aalimi, Etty Spiegel, Ilana Chervinsky, et al.
Birth Defects Research
|
April 15, 2022
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature
Lyse Ruaud, Nathalie Roux, Lucile Boutaud, et al.
Page
of 8