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Annick Raas-Rothschild

Showing results (21-30 of 89) with videos related to

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European Journal of Medical Genetics|April 17, 2020
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotypingBen Pode-Shakked, Yael Finezilber, Yonit Levi, et al.
American Journal of Medical Genetics|September 20, 2002
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndromeAnnick Raas-Rothschild, Eyal Shteyer, Israela Lerer, et al.
European Journal of Medical Genetics|March 31, 2009
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literatureAnnick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, et al.
European Journal of Medical Genetics|April 27, 2018
Phenotype variability in Hajdu-Cheney syndromeMiriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
European Journal of Medical Genetics|April 1, 2021
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literatureRona Merdler-Rabinowicz, Daphna Prat, Ben Pode-Shakked, et al.
Neurology. Genetics|April 15, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IVAlbert L Misko, Levi B Wood, Madeline DeBono, et al.
Journal of the American Society of Nephrology : JASN|November 18, 2005
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?Yaacov Frishberg, Sofia Feinstein, Choni Rinat, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|January 14, 2018
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular FindingsMichal Berkenstadt, Ben Pode-Shakked, Ortal Barel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Nablus syndrome: Easy to diagnose yet difficult to solveJudith Allanson, Amanda Smith, Francesca Forzano, et al.
Pediatric Nephrology (Berlin, Germany)|September 27, 2021
Kidney and urinary tract findings among patients with Kabuki (make-up) syndromeRona Merdler-Rabinowicz, Ben Pode-Shakked, Asaf Vivante, et al.
Pageof 9

Showing results (21-30 of 89) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|April 17, 2020
Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotypingBen Pode-Shakked, Yael Finezilber, Yonit Levi, et al.
American Journal of Medical Genetics|September 20, 2002
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndromeAnnick Raas-Rothschild, Eyal Shteyer, Israela Lerer, et al.
European Journal of Medical Genetics|March 31, 2009
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literatureAnnick Raas-Rothschild, Trijnie Dijkhuizen, Birgit Sikkema-Raddatz, et al.
European Journal of Medical Genetics|April 27, 2018
Phenotype variability in Hajdu-Cheney syndromeMiriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
European Journal of Medical Genetics|April 1, 2021
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literatureRona Merdler-Rabinowicz, Daphna Prat, Ben Pode-Shakked, et al.
Neurology. Genetics|April 15, 2022
Cross-sectional Observations on the Natural History of Mucolipidosis Type IVAlbert L Misko, Levi B Wood, Madeline DeBono, et al.
Journal of the American Society of Nephrology : JASN|November 18, 2005
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?Yaacov Frishberg, Sofia Feinstein, Choni Rinat, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|January 14, 2018
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular FindingsMichal Berkenstadt, Ben Pode-Shakked, Ortal Barel, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Nablus syndrome: Easy to diagnose yet difficult to solveJudith Allanson, Amanda Smith, Francesca Forzano, et al.
Pediatric Nephrology (Berlin, Germany)|September 27, 2021
Kidney and urinary tract findings among patients with Kabuki (make-up) syndromeRona Merdler-Rabinowicz, Ben Pode-Shakked, Asaf Vivante, et al.
Pageof 9