George E. Tiller

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson et autres

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes, Alexander J.M. Dingemans et autres

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POS1197 VALIDATION OF PATIENT-REPORTED OUTCOMES MEASUREMENT INFORMATION SYSTEM (PROMIS) QUESTIONNAIRES FOR CHILDREN WITH CHRONIC NONBACTERIAL OSTEOMYELITIS USING THE CHOIR DATA

Yongdong Zhao, M. Eckert, Enxi Wu, M. Norman Oliver et autres

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De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaëtan Lesca et autres

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Skeletal Dysplasias and Heritable Connective Tissue Disorders

George E. Tiller, Gary A. Bellus

Contributors

Steven H. Abman, Noorjahan Ali, Karel Allegaert, Jamie E. Anderson et autres

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson et autres

nl, ca, gb, es, de, fr, dk, us, pt, it, no, fi, jp, au (code pays fourni par la source)

De Novo Variants in Rab11b Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaëtan Lesca et autres

de, fr, us, pl (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

us, fr, ch, gb, nl, cn, no, it, dk, de, pk (code pays fourni par la source)

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao et autres

us, fr, ch, gb, nl, cn, no, it, dk, de, pk (code pays fourni par la source)

Table 6. [Recommended Surveillance for Individuals with Hypochondroplasia].

Michael B. Bober, Gary A. Bellus, Sarah M. Nikkel, George E. Tiller

PMM2‐CDG caused by uniparental disomy: Case report and literature review

Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne Boyer et autres

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