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Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study

Pediatric blood & cancer, 2024-02, Vol.71 (2), p.e30761-n/a

2024

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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3262-3277

2022

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Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.38-52

2020

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A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.987-993

2020

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Nablus syndrome: Easy to diagnose yet difficult to solve

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.447-457

2018

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BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e665-n/a

2019

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The clinical spectrum of fetal Niemann–Pick type C

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.446-450

2009

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Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

Movement disorders, 2011-08, Vol.26 (9), p.1593-1604

2011

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Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Human mutation, 2017-04, Vol.38 (4), p.365-372

2017

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Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome

Pediatric nephrology (Berlin, West), 2021-12, Vol.36 (12), p.4009-4012

2021

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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

American journal of human genetics, 2011-06, Vol.88 (6), p.788-795

2011

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The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

Genetics in medicine, 2016-04, Vol.18 (4), p.372-377

2016

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Ethical Dilemmas Linked to Fragile X Testing of Minors—a Preliminary Survey Among Professionals

Journal of molecular neuroscience, 2020-02, Vol.70 (2), p.254-259

2020

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PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Journal of bone and mineral research, 2017-12, Vol.32 (12), p.2394-2404

2017

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LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings

Journal of ultrasound in medicine, 2018-07, Vol.37 (7), p.1827-1833

2018

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.379-379, Article 379

2021

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1792-1796

2016

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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in genetics, 2019-06, Vol.10, p.425-425

2019

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New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Disease models & mechanisms, 2017-04, Vol.10 (4), p.463-474

2017

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Vici syndrome in Israel: Clinical and molecular insights

Frontiers in genetics, 2022-09, Vol.13, p.991721-991721

2022

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Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

International journal of molecular sciences, 2020-11, Vol.21 (21), p.8200

2020

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Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Frontiers in genetics, 2023-01, Vol.13, p.1018062-1018062

2023

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Extensive Mongolian Spots and Lysosomal Storage Diseases

The Journal of pediatrics, 2016-03, Vol.170, p.333-333.e1

2016

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The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Journal of the American Academy of Dermatology, 2008-07, Vol.59 (1), p.79-85

2008

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Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

European journal of medical genetics, 2017-06, Vol.60 (6), p.340-344

2017

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Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

Nablus syndrome: Easy to diagnose yet difficult to solve

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

The clinical spectrum of fetal Niemann–Pick type C

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing

Ethical Dilemmas Linked to Fragile X Testing of Minors—a Preliminary Survey Among Professionals

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Vici syndrome in Israel: Clinical and molecular insights

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Extensive Mongolian Spots and Lysosomal Storage Diseases

The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

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